SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2137277484 CTNND1 Health Risk Pathogenic Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2
RS2137278830 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137279498 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137286457 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Malignant tumor of urinary bladder
RS2137286889 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2137287115 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137290161 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137290227 MED13L Health Risk Conflicting classifications of pathogenicity Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137291352 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2137291785 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137301783 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137302207 DNM1L Health Risk Likely pathogenic Encephalopathy, lethal
RS2137303448 IGF1 Health Risk Pathogenic —
RS2137305263 MED13L Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2137305371 RECQL Health Risk Conflicting classifications of pathogenicity —
RS2137306817 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137306954 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137307021 GJB2 Health Risk Pathogenic —
RS2137307119 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137307128 GJB2 Health Risk Pathogenic —
RS2137307322 GJB2 Health Risk Likely pathogenic Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
RS2137307658 GJB2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS2137307819 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137307992 MED13L Health Risk Pathogenic/Likely pathogenic Intellectual disability, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137308116 GJB2 Health Risk Pathogenic —
RS2137308192 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS2137308372 GJB2 Health Risk Pathogenic —
RS2137308512 GJB2 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS2137308740 GJB2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS2137308765 GJB2 Health Risk Pathogenic —
RS2137308791 GJB2 Health Risk Pathogenic —
RS2137308851 GJB2 Health Risk Likely pathogenic —
RS2137318625 CAPN1 Health Risk Likely pathogenic —
RS2137318717 CAPN1 Health Risk Pathogenic —
RS2137333664 GJB6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 3B
RS2137333887 GJB6 Health Risk Likely pathogenic —
RS2137335988 SPART Health Risk Pathogenic Troyer syndrome, Troyer syndrome
RS2137339472 RECQL Health Risk Likely pathogenic —
RS2137342973 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137344539 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137345150 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137345196 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS2137348568 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2137348962 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137349691 RECQL Health Risk Conflicting classifications of pathogenicity —
RS2137350203 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2137352720 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2137353827 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2137355586 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2137365958 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2137368561 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137372686 DNM1L Health Risk Likely pathogenic —
RS2137373056 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137373566 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137378244 CRYAB Health Risk Likely pathogenic Cataract 16 multiple types, Cataract 16 multiple types
RS2137378964 MED13L Health Risk Pathogenic Neurodevelopmental disorder, Dextro-looped transposition of the great arteries
RS2137381305 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2137384588 CRYAB Health Risk Likely pathogenic —
RS2137384847 CRYAB Health Risk Pathogenic Dilated cardiomyopathy 1II, Dilated cardiomyopathy 1II
RS2137385115 MED13L Health Risk Pathogenic MED13L-related disorder, MED13L-related disorder
RS2137385850 MED13L Health Risk Pathogenic MED13L-related neurodevelopmental disorder, MED13L-related neurodevelopmental disorder
RS2137386388 MED13L Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2137388078 ABCC9 Health Risk Likely pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
RS2137392998 CTNND1 Health Risk Likely pathogenic Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2
RS2137395750 ABCC9 Health Risk Pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
RS2137396956 HMGB1 Health Risk Likely pathogenic —
RS2137404791 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137404831 POU4F1 Health Risk Pathogenic Ataxia, intention tremor
RS2137404878 POU4F1 Health Risk Pathogenic Ataxia, intention tremor
RS2137406246 POU4F1 Health Risk Likely pathogenic —
RS2137415111 MED13L Health Risk Pathogenic —
RS2137423759 CEP290 Health Risk Likely pathogenic Leber congenital amaurosis 10, Bardet-Biedl syndrome 14
RS2137424964 DNM1L Health Risk Conflicting classifications of pathogenicity Mitochondrial disease, Mitochondrial disease
RS2137425453 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137426627 CTNND1 Health Risk Pathogenic —
RS2137444128 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2137445950 DNM1L Health Risk Likely pathogenic —
RS2137446416 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2137446441 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137446511 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137446876 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2137446901 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137446910 MED13L Health Risk Pathogenic —
RS2137447076 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137449224 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2137449498 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2137449637 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137450410 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137450607 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137450631 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137450725 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137450728 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137451744 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137451892 BRCA2 Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2137452259 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137458206 BRCA2 Health Risk Pathogenic Prostate cancer, Breast carcinoma
RS2137458240 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137458263 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137461104 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2137461170 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
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