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What is the clinical significance of DEL1167000, is it benign or pathogenic? | It is Pathogenic. | <s>[INST]What is the clinical significance of DEL1167000, is it benign or pathogenic?[/INST] It is Pathogenic.</s> |
How long is the variation length for DEL1167000? | The variation length is 3 base pairs. | <s>[INST]How long is the variation length for DEL1167000?[/INST] The variation length is 3 base pairs.</s> |
What is the origin for DEL1167000? | The origin is germline. | <s>[INST]What is the origin for DEL1167000?[/INST] The origin is germline.</s> |
What is the type of genetic variation for DEL1167000? | The variation is a Deletion. | <s>[INST]What is the type of genetic variation for DEL1167000?[/INST] The variation is a Deletion.</s> |
What is the genetic molecular consequence for DEL1167000? | The resulting gene consequence is a nonsense. | <s>[INST]What is the genetic molecular consequence for DEL1167000?[/INST] The resulting gene consequence is a nonsense.</s> |
Which condition is asociated with DUP1174971? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDUP1174971. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DUP1174971. | <s>[INST]Which condition is asociated with DUP1174971?[/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDUP1174971. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DUP1174971.</s> |
In which chromosome is DUP1174971 located? | It is located in the chromosome 13. | <s>[INST]In which chromosome is DUP1174971 located?[/INST] It is located in the chromosome 13.</s> |
Which methods support the evidence found for the DUP1174971? | Associated methods are: clinical testing. | <s>[INST]Which methods support the evidence found for the DUP1174971?[/INST] Associated methods are: clinical testing.</s> |
What is the clinical significance of DUP1174971, is it benign or pathogenic? | It is Pathogenic. | <s>[INST]What is the clinical significance of DUP1174971, is it benign or pathogenic?[/INST] It is Pathogenic.</s> |
How long is the variation length for DUP1174971? | The variation length is 1 base pairs. | <s>[INST]How long is the variation length for DUP1174971?[/INST] The variation length is 1 base pairs.</s> |
What is the origin for DUP1174971? | The origin is germline. | <s>[INST]What is the origin for DUP1174971?[/INST] The origin is germline.</s> |
What is the type of genetic variation for DUP1174971? | The variation is a Duplication. | <s>[INST]What is the type of genetic variation for DUP1174971?[/INST] The variation is a Duplication.</s> |
What is the genetic molecular consequence for DUP1174971? | The resulting gene consequence is a frameshift variant. | <s>[INST]What is the genetic molecular consequence for DUP1174971?[/INST] The resulting gene consequence is a frameshift variant.</s> |
Which condition is asociated with SNV1317600? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsSNV1317600. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1317600. | <s>[INST]Which condition is asociated with SNV1317600?[/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsSNV1317600. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1317600.</s> |
In which chromosome is SNV1317600 located? | It is located in the chromosome 13. | <s>[INST]In which chromosome is SNV1317600 located?[/INST] It is located in the chromosome 13.</s> |
Which methods support the evidence found for the SNV1317600? | Associated methods are: clinical testing. | <s>[INST]Which methods support the evidence found for the SNV1317600?[/INST] Associated methods are: clinical testing.</s> |
What is the clinical significance of SNV1317600, is it benign or pathogenic? | It is Uncertain significance. | <s>[INST]What is the clinical significance of SNV1317600, is it benign or pathogenic?[/INST] It is Uncertain significance.</s> |
How long is the variation length for SNV1317600? | The variation length is 1 base pairs. | <s>[INST]How long is the variation length for SNV1317600?[/INST] The variation length is 1 base pairs.</s> |
What is the origin for SNV1317600? | The origin is unknown. | <s>[INST]What is the origin for SNV1317600?[/INST] The origin is unknown.</s> |
What is the type of genetic variation for SNV1317600? | The variation is a single nucleotide variant. | <s>[INST]What is the type of genetic variation for SNV1317600?[/INST] The variation is a single nucleotide variant.</s> |
What is the genetic molecular consequence for SNV1317600? | The resulting gene consequence is a missense variant. | <s>[INST]What is the genetic molecular consequence for SNV1317600?[/INST] The resulting gene consequence is a missense variant.</s> |
Which condition is asociated with DEL1370733? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL1370733. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL1370733. | <s>[INST]Which condition is asociated with DEL1370733?[/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsDEL1370733. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL1370733.</s> |
In which chromosome is DEL1370733 located? | It is located in the chromosome 13. | <s>[INST]In which chromosome is DEL1370733 located?[/INST] It is located in the chromosome 13.</s> |
Which methods support the evidence found for the DEL1370733? | Associated methods are: clinical testing. | <s>[INST]Which methods support the evidence found for the DEL1370733?[/INST] Associated methods are: clinical testing.</s> |
What is the clinical significance of DEL1370733, is it benign or pathogenic? | It is Pathogenic. | <s>[INST]What is the clinical significance of DEL1370733, is it benign or pathogenic?[/INST] It is Pathogenic.</s> |
How long is the variation length for DEL1370733? | The variation length is 92 base pairs. | <s>[INST]How long is the variation length for DEL1370733?[/INST] The variation length is 92 base pairs.</s> |
What is the origin for DEL1370733? | The origin is germline. | <s>[INST]What is the origin for DEL1370733?[/INST] The origin is germline.</s> |
What is the type of genetic variation for DEL1370733? | The variation is a Deletion. | <s>[INST]What is the type of genetic variation for DEL1370733?[/INST] The variation is a Deletion.</s> |
What is the genetic molecular consequence for DEL1370733? | The resulting gene consequence is a splice donor variant. | <s>[INST]What is the genetic molecular consequence for DEL1370733?[/INST] The resulting gene consequence is a splice donor variant.</s> |
Which condition is asociated with SNV1442706? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsSNV1442706. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1442706. | <s>[INST]Which condition is asociated with SNV1442706?[/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsSNV1442706. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1442706.</s> |
In which chromosome is SNV1442706 located? | It is located in the chromosome 13. | <s>[INST]In which chromosome is SNV1442706 located?[/INST] It is located in the chromosome 13.</s> |
Which methods support the evidence found for the SNV1442706? | Associated methods are: clinical testing. | <s>[INST]Which methods support the evidence found for the SNV1442706?[/INST] Associated methods are: clinical testing.</s> |
What is the clinical significance of SNV1442706, is it benign or pathogenic? | It is Uncertain significance. | <s>[INST]What is the clinical significance of SNV1442706, is it benign or pathogenic?[/INST] It is Uncertain significance.</s> |
How long is the variation length for SNV1442706? | The variation length is 1 base pairs. | <s>[INST]How long is the variation length for SNV1442706?[/INST] The variation length is 1 base pairs.</s> |
What is the origin for SNV1442706? | The origin is germline. | <s>[INST]What is the origin for SNV1442706?[/INST] The origin is germline.</s> |
What is the type of genetic variation for SNV1442706? | The variation is a single nucleotide variant. | <s>[INST]What is the type of genetic variation for SNV1442706?[/INST] The variation is a single nucleotide variant.</s> |
What is the genetic molecular consequence for SNV1442706? | The resulting gene consequence is a missense variant. | <s>[INST]What is the genetic molecular consequence for SNV1442706?[/INST] The resulting gene consequence is a missense variant.</s> |
Which condition is asociated with IND1501625? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsIND1501625. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/IND1501625. | <s>[INST]Which condition is asociated with IND1501625?[/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsIND1501625. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/IND1501625.</s> |
In which chromosome is IND1501625 located? | It is located in the chromosome 13. | <s>[INST]In which chromosome is IND1501625 located?[/INST] It is located in the chromosome 13.</s> |
Which methods support the evidence found for the IND1501625? | Associated methods are: clinical testing. | <s>[INST]Which methods support the evidence found for the IND1501625?[/INST] Associated methods are: clinical testing.</s> |
What is the clinical significance of IND1501625, is it benign or pathogenic? | It is Uncertain significance. | <s>[INST]What is the clinical significance of IND1501625, is it benign or pathogenic?[/INST] It is Uncertain significance.</s> |
How long is the variation length for IND1501625? | The variation length is 2 base pairs. | <s>[INST]How long is the variation length for IND1501625?[/INST] The variation length is 2 base pairs.</s> |
What is the origin for IND1501625? | The origin is germline. | <s>[INST]What is the origin for IND1501625?[/INST] The origin is germline.</s> |
What is the type of genetic variation for IND1501625? | The variation is a Indel. | <s>[INST]What is the type of genetic variation for IND1501625?[/INST] The variation is a Indel.</s> |
What is the genetic molecular consequence for IND1501625? | The resulting gene consequence is a missense variant. | <s>[INST]What is the genetic molecular consequence for IND1501625?[/INST] The resulting gene consequence is a missense variant.</s> |
Which condition is asociated with SNV1615023? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsSNV1615023. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1615023. | <s>[INST]Which condition is asociated with SNV1615023?[/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsSNV1615023. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1615023.</s> |
In which chromosome is SNV1615023 located? | It is located in the chromosome 13. | <s>[INST]In which chromosome is SNV1615023 located?[/INST] It is located in the chromosome 13.</s> |
Which methods support the evidence found for the SNV1615023? | Associated methods are: clinical testing. | <s>[INST]Which methods support the evidence found for the SNV1615023?[/INST] Associated methods are: clinical testing.</s> |
What is the clinical significance of SNV1615023, is it benign or pathogenic? | It is Likely benign. | <s>[INST]What is the clinical significance of SNV1615023, is it benign or pathogenic?[/INST] It is Likely benign.</s> |
How long is the variation length for SNV1615023? | The variation length is 1 base pairs. | <s>[INST]How long is the variation length for SNV1615023?[/INST] The variation length is 1 base pairs.</s> |
What is the origin for SNV1615023? | The origin is germline. | <s>[INST]What is the origin for SNV1615023?[/INST] The origin is germline.</s> |
What is the type of genetic variation for SNV1615023? | The variation is a single nucleotide variant. | <s>[INST]What is the type of genetic variation for SNV1615023?[/INST] The variation is a single nucleotide variant.</s> |
What is the genetic molecular consequence for SNV1615023? | The resulting gene consequence is a synonymous variant. | <s>[INST]What is the genetic molecular consequence for SNV1615023?[/INST] The resulting gene consequence is a synonymous variant.</s> |
Which condition is asociated with SNV1520580? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsSNV1520580. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1520580. | <s>[INST]Which condition is asociated with SNV1520580?[/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsSNV1520580. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1520580.</s> |
In which chromosome is SNV1520580 located? | It is located in the chromosome 13. | <s>[INST]In which chromosome is SNV1520580 located?[/INST] It is located in the chromosome 13.</s> |
Which methods support the evidence found for the SNV1520580? | Associated methods are: clinical testing. | <s>[INST]Which methods support the evidence found for the SNV1520580?[/INST] Associated methods are: clinical testing.</s> |
What is the clinical significance of SNV1520580, is it benign or pathogenic? | It is Likely benign. | <s>[INST]What is the clinical significance of SNV1520580, is it benign or pathogenic?[/INST] It is Likely benign.</s> |
How long is the variation length for SNV1520580? | The variation length is 1 base pairs. | <s>[INST]How long is the variation length for SNV1520580?[/INST] The variation length is 1 base pairs.</s> |
What is the origin for SNV1520580? | The origin is germline. | <s>[INST]What is the origin for SNV1520580?[/INST] The origin is germline.</s> |
What is the type of genetic variation for SNV1520580? | The variation is a single nucleotide variant. | <s>[INST]What is the type of genetic variation for SNV1520580?[/INST] The variation is a single nucleotide variant.</s> |
What is the genetic molecular consequence for SNV1520580? | The resulting gene consequence is a synonymous variant. | <s>[INST]What is the genetic molecular consequence for SNV1520580?[/INST] The resulting gene consequence is a synonymous variant.</s> |
Which condition is asociated with SNV1706443? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsSNV1706443. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1706443. | <s>[INST]Which condition is asociated with SNV1706443?[/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsSNV1706443. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/SNV1706443.</s> |
In which chromosome is SNV1706443 located? | It is located in the chromosome 13. | <s>[INST]In which chromosome is SNV1706443 located?[/INST] It is located in the chromosome 13.</s> |
Which methods support the evidence found for the SNV1706443? | Associated methods are: clinical testing. | <s>[INST]Which methods support the evidence found for the SNV1706443?[/INST] Associated methods are: clinical testing.</s> |
What is the clinical significance of SNV1706443, is it benign or pathogenic? | It is Pathogenic. | <s>[INST]What is the clinical significance of SNV1706443, is it benign or pathogenic?[/INST] It is Pathogenic.</s> |
How long is the variation length for SNV1706443? | The variation length is 1 base pairs. | <s>[INST]How long is the variation length for SNV1706443?[/INST] The variation length is 1 base pairs.</s> |
What is the origin for SNV1706443? | The origin is germline. | <s>[INST]What is the origin for SNV1706443?[/INST] The origin is germline.</s> |
What is the type of genetic variation for SNV1706443? | The variation is a single nucleotide variant. | <s>[INST]What is the type of genetic variation for SNV1706443?[/INST] The variation is a single nucleotide variant.</s> |
What is the genetic molecular consequence for SNV1706443? | The resulting gene consequence is a nonsense. | <s>[INST]What is the genetic molecular consequence for SNV1706443?[/INST] The resulting gene consequence is a nonsense.</s> |
Which condition is asociated with RS587778849 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778849 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778849 SNP. | <s>[INST]Which condition is asociated with RS587778849 SNP?[/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS587778849 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS587778849 SNP.</s> |
In which chromosome is RS587778849 SNP located? | It is located in the chromosome 13. | <s>[INST]In which chromosome is RS587778849 SNP located?[/INST] It is located in the chromosome 13.</s> |
Which methods support the evidence found for the RS587778849 SNP? | Associated methods are: clinical testing. | <s>[INST]Which methods support the evidence found for the RS587778849 SNP?[/INST] Associated methods are: clinical testing.</s> |
What is the clinical significance of RS587778849 SNP, is it benign or pathogenic? | It is Pathogenic. | <s>[INST]What is the clinical significance of RS587778849 SNP, is it benign or pathogenic?[/INST] It is Pathogenic.</s> |
How long is the variation length for RS587778849 SNP? | The variation length is 1 base pairs. | <s>[INST]How long is the variation length for RS587778849 SNP?[/INST] The variation length is 1 base pairs.</s> |
What is the origin for RS587778849 SNP? | The origin is somatic. | <s>[INST]What is the origin for RS587778849 SNP?[/INST] The origin is somatic.</s> |
What is the type of genetic variation for RS587778849 SNP? | The variation is a single nucleotide variant. | <s>[INST]What is the type of genetic variation for RS587778849 SNP?[/INST] The variation is a single nucleotide variant.</s> |
What is the genetic molecular consequence for RS587778849 SNP? | The resulting gene consequence is a nonsense. | <s>[INST]What is the genetic molecular consequence for RS587778849 SNP?[/INST] The resulting gene consequence is a nonsense.</s> |
Which condition is asociated with RS1593457065 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593457065 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593457065 SNP. | <s>[INST]Which condition is asociated with RS1593457065 SNP?[/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1593457065 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1593457065 SNP.</s> |
In which chromosome is RS1593457065 SNP located? | It is located in the chromosome 13. | <s>[INST]In which chromosome is RS1593457065 SNP located?[/INST] It is located in the chromosome 13.</s> |
Which methods support the evidence found for the RS1593457065 SNP? | Associated methods are: clinical testing. | <s>[INST]Which methods support the evidence found for the RS1593457065 SNP?[/INST] Associated methods are: clinical testing.</s> |
What is the clinical significance of RS1593457065 SNP, is it benign or pathogenic? | It is Pathogenic. | <s>[INST]What is the clinical significance of RS1593457065 SNP, is it benign or pathogenic?[/INST] It is Pathogenic.</s> |
How long is the variation length for RS1593457065 SNP? | The variation length is 1 base pairs. | <s>[INST]How long is the variation length for RS1593457065 SNP?[/INST] The variation length is 1 base pairs.</s> |
What is the origin for RS1593457065 SNP? | The origin is germline. | <s>[INST]What is the origin for RS1593457065 SNP?[/INST] The origin is germline.</s> |
What is the type of genetic variation for RS1593457065 SNP? | The variation is a single nucleotide variant. | <s>[INST]What is the type of genetic variation for RS1593457065 SNP?[/INST] The variation is a single nucleotide variant.</s> |
What is the genetic molecular consequence for RS1593457065 SNP? | The resulting gene consequence is a nonsense. | <s>[INST]What is the genetic molecular consequence for RS1593457065 SNP?[/INST] The resulting gene consequence is a nonsense.</s> |
Which condition is asociated with RS1948534542 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1948534542 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1948534542 SNP. | <s>[INST]Which condition is asociated with RS1948534542 SNP?[/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1948534542 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1948534542 SNP.</s> |
In which chromosome is RS1948534542 SNP located? | It is located in the chromosome 13. | <s>[INST]In which chromosome is RS1948534542 SNP located?[/INST] It is located in the chromosome 13.</s> |
Which methods support the evidence found for the RS1948534542 SNP? | Associated methods are: clinical testing. | <s>[INST]Which methods support the evidence found for the RS1948534542 SNP?[/INST] Associated methods are: clinical testing.</s> |
What is the clinical significance of RS1948534542 SNP, is it benign or pathogenic? | It is Pathogenic. | <s>[INST]What is the clinical significance of RS1948534542 SNP, is it benign or pathogenic?[/INST] It is Pathogenic.</s> |
How long is the variation length for RS1948534542 SNP? | The variation length is 1 base pairs. | <s>[INST]How long is the variation length for RS1948534542 SNP?[/INST] The variation length is 1 base pairs.</s> |
What is the origin for RS1948534542 SNP? | The origin is maternal. | <s>[INST]What is the origin for RS1948534542 SNP?[/INST] The origin is maternal.</s> |
What is the type of genetic variation for RS1948534542 SNP? | The variation is a single nucleotide variant. | <s>[INST]What is the type of genetic variation for RS1948534542 SNP?[/INST] The variation is a single nucleotide variant.</s> |
What is the genetic molecular consequence for RS1948534542 SNP? | The resulting gene consequence is a nonsense. | <s>[INST]What is the genetic molecular consequence for RS1948534542 SNP?[/INST] The resulting gene consequence is a nonsense.</s> |
Which condition is asociated with RS1131690891 SNP? | Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1131690891 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1131690891 SNP. | <s>[INST]Which condition is asociated with RS1131690891 SNP?[/INST] Retinoblastoma is a malignant tumor of the developing retina that occurs in children, usually before age five years. Retinoblastoma develops from cells that have cancer-predisposing variants in both copies of RB1. Retinoblastoma may be unifocal or multifocal. About 60% of affected individuals have unilateral retinoblastoma with a mean age of diagnosis of 24 months; about 40% have bilateral retinoblastoma with a mean age of diagnosis of 15 months. Heritable retinoblastoma is an autosomal dominant susceptibility for retinoblastoma. Individuals with heritable retinoblastoma are also at increased risk of developing non-ocular tumors. The associated SNPedia page is https://www.snpedia.com/index.php/RsRS1131690891 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1131690891 SNP.</s> |
In which chromosome is RS1131690891 SNP located? | It is located in the chromosome 13. | <s>[INST]In which chromosome is RS1131690891 SNP located?[/INST] It is located in the chromosome 13.</s> |
Which methods support the evidence found for the RS1131690891 SNP? | Associated methods are: clinical testing. | <s>[INST]Which methods support the evidence found for the RS1131690891 SNP?[/INST] Associated methods are: clinical testing.</s> |
What is the clinical significance of RS1131690891 SNP, is it benign or pathogenic? | It is Likely pathogenic. | <s>[INST]What is the clinical significance of RS1131690891 SNP, is it benign or pathogenic?[/INST] It is Likely pathogenic.</s> |
How long is the variation length for RS1131690891 SNP? | The variation length is 1 base pairs. | <s>[INST]How long is the variation length for RS1131690891 SNP?[/INST] The variation length is 1 base pairs.</s> |
What is the origin for RS1131690891 SNP? | The origin is de novo. | <s>[INST]What is the origin for RS1131690891 SNP?[/INST] The origin is de novo.</s> |
What is the type of genetic variation for RS1131690891 SNP? | The variation is a single nucleotide variant. | <s>[INST]What is the type of genetic variation for RS1131690891 SNP?[/INST] The variation is a single nucleotide variant.</s> |