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What is the origin for DEL820581? | The origin is germline. |
What is the type of genetic variation for DEL820581? | The variation is a Deletion. |
Which condition is asociated with DEL820572? | 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/RsDEL820572. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL820572. |
In which chromosome is DEL820572 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL820572? | Associated methods are: clinical testing. |
What is the clinical significance of DEL820572, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL820572? | The variation length is 359 base pairs. |
What is the origin for DEL820572? | The origin is germline. |
What is the type of genetic variation for DEL820572? | The variation is a Deletion. |
Which condition is asociated with DEL820569? | 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/RsDEL820569. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL820569. |
In which chromosome is DEL820569 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL820569? | Associated methods are: clinical testing. |
What is the clinical significance of DEL820569, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL820569? | The variation length is 442325 base pairs. |
What is the origin for DEL820569? | The origin is germline. |
What is the type of genetic variation for DEL820569? | The variation is a Deletion. |
Which condition is asociated with DEL820571? | 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/RsDEL820571. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL820571. |
In which chromosome is DEL820571 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL820571? | Associated methods are: clinical testing. |
What is the clinical significance of DEL820571, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL820571? | The variation length is 180144 base pairs. |
What is the origin for DEL820571? | The origin is germline. |
What is the type of genetic variation for DEL820571? | The variation is a Deletion. |
Which condition is asociated with DUP820579? | 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/RsDUP820579. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DUP820579. |
In which chromosome is DUP820579 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DUP820579? | Associated methods are: clinical testing. |
What is the clinical significance of DUP820579, is it benign or pathogenic? | It is Likely pathogenic. |
How long is the variation length for DUP820579? | The variation length is 12400 base pairs. |
What is the origin for DUP820579? | The origin is germline. |
What is the type of genetic variation for DUP820579? | The variation is a Duplication. |
Which condition is asociated with DEL820574? | 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/RsDEL820574. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL820574. |
In which chromosome is DEL820574 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL820574? | Associated methods are: clinical testing. |
What is the clinical significance of DEL820574, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL820574? | The variation length is 176371 base pairs. |
What is the origin for DEL820574? | The origin is germline. |
What is the type of genetic variation for DEL820574? | The variation is a Deletion. |
Which condition is asociated with DEL820573? | 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/RsDEL820573. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL820573. |
In which chromosome is DEL820573 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL820573? | Associated methods are: clinical testing. |
What is the clinical significance of DEL820573, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL820573? | The variation length is 109196 base pairs. |
What is the origin for DEL820573? | The origin is germline. |
What is the type of genetic variation for DEL820573? | The variation is a Deletion. |
Which condition is asociated with DEL820570? | 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/RsDEL820570. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/DEL820570. |
In which chromosome is DEL820570 located? | It is located in the chromosome 13. |
Which methods support the evidence found for the DEL820570? | Associated methods are: clinical testing. |
What is the clinical significance of DEL820570, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for DEL820570? | The variation length is 439162 base pairs. |
What is the origin for DEL820570? | The origin is germline. |
What is the type of genetic variation for DEL820570? | The variation is a Deletion. |
Which condition is asociated with RS1949433098 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/RsRS1949433098 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1949433098 SNP. |
In which chromosome is RS1949433098 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1949433098 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1949433098 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1949433098 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1949433098 SNP? | The origin is germline. |
What is the type of genetic variation for RS1949433098 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS1949433098 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS1948522929 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/RsRS1948522929 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1948522929 SNP. |
In which chromosome is RS1948522929 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1948522929 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1948522929 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1948522929 SNP? | The variation length is 4 base pairs. |
What is the origin for RS1948522929 SNP? | The origin is germline. |
What is the type of genetic variation for RS1948522929 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS1948522929 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS1949505926 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/RsRS1949505926 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1949505926 SNP. |
In which chromosome is RS1949505926 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1949505926 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1949505926 SNP, is it benign or pathogenic? | It is Uncertain significance. |
How long is the variation length for RS1949505926 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1949505926 SNP? | The origin is germline. |
What is the type of genetic variation for RS1949505926 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS1949505926 SNP? | The resulting gene consequence is a missense variant. |
Which condition is asociated with RS1952455844 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/RsRS1952455844 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1952455844 SNP. |
In which chromosome is RS1952455844 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1952455844 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1952455844 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1952455844 SNP? | The variation length is 2 base pairs. |
What is the origin for RS1952455844 SNP? | The origin is germline. |
What is the type of genetic variation for RS1952455844 SNP? | The variation is a Microsatellite. |
What is the genetic molecular consequence for RS1952455844 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS1949419453 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/RsRS1949419453 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1949419453 SNP. |
In which chromosome is RS1949419453 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1949419453 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1949419453 SNP, is it benign or pathogenic? | It is Uncertain significance. |
How long is the variation length for RS1949419453 SNP? | The variation length is 1 base pairs. |
What is the origin for RS1949419453 SNP? | The origin is germline. |
What is the type of genetic variation for RS1949419453 SNP? | The variation is a single nucleotide variant. |
What is the genetic molecular consequence for RS1949419453 SNP? | The resulting gene consequence is a intron variant. |
Which condition is asociated with RS1952053203 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/RsRS1952053203 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS1952053203 SNP. |
In which chromosome is RS1952053203 SNP located? | It is located in the chromosome 13. |
Which methods support the evidence found for the RS1952053203 SNP? | Associated methods are: clinical testing. |
What is the clinical significance of RS1952053203 SNP, is it benign or pathogenic? | It is Pathogenic. |
How long is the variation length for RS1952053203 SNP? | The variation length is 13 base pairs. |
What is the origin for RS1952053203 SNP? | The origin is germline. |
What is the type of genetic variation for RS1952053203 SNP? | The variation is a Deletion. |
What is the genetic molecular consequence for RS1952053203 SNP? | The resulting gene consequence is a frameshift variant. |
Which condition is asociated with RS886050268 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/RsRS886050268 SNP. The NCBI page is https://www.ncbi.nlm.nih.gov/snp/RS886050268 SNP. |
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