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
RS2135828294 SHANK2 Health Risk Pathogenic —
RS2135828360 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135829327 COL13A1 Health Risk Pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS2135829844 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135829883 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2135830163 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135831473 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135831491 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2135832115 UBE3B Health Risk Likely pathogenic Oculocerebrofacial syndrome, Kaufman type
RS2135832423 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135832426 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135832456 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2135832474 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135832527 HNF1A Health Risk Pathogenic —
RS2135832538 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 3
RS2135832551 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2135832560 SCYL2 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 4, neurogenic
RS2135832562 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135832585 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135832611 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135832615 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135832632 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 3
RS2135832668 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135832675 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135832685 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135832689 HNF1A Health Risk Likely pathogenic Monogenic diabetes, HNF1A-related disorder
RS2135832696 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
RS2135832753 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135832792 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135832798 SCYL2 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 4, neurogenic
RS2135832861 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2135833005 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135833007 HNF1A Health Risk Pathogenic/Likely pathogenic —
RS2135833290 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2135833480 ATM Health Risk Pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2135833743 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135834073 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135834102 TCTN2 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2135834179 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135834235 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135834746 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135834949 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2135835079 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135836123 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2135836264 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2135836328 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135836483 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135836491 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135837254 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2135837530 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2135838442 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2135838920 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2135839075 HNF1A Health Risk Pathogenic —
RS2135839114 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS2135839308 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135839346 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135839643 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3
RS2135839880 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2135839892 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135839897 HNF1A Health Risk Likely pathogenic Monogenic diabetes, HNF1A-related disorder
RS2135839973 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135839997 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135840135 TCTN2 Health Risk Pathogenic —
RS2135840297 MYRF Health Risk Likely pathogenic Cardiac-urogenital syndrome, Cardiac-urogenital syndrome
RS2135840482 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135840945 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2135840980 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2135841104 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135841113 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135841224 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135841238 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS2135841315 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135841381 HNF1A Health Risk Pathogenic —
RS2135841512 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135841592 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 3
RS2135841756 HNF1A Health Risk Pathogenic —
RS2135841769 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135841855 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2135842256 HNF1A Health Risk Pathogenic —
RS2135842335 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3
RS2135842474 HNF1A Health Risk Pathogenic —
RS2135842587 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2135842812 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2135843880 MYRF Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2135845255 HNF1A Health Risk Pathogenic —
RS2135845384 HNF1A Health Risk Pathogenic —
RS2135845768 HNF1A Health Risk Conflicting classifications of pathogenicity —
RS2135845908 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2135845949 HNF1A Health Risk Pathogenic —
RS2135847098 EPS8 Health Risk Pathogenic —
RS2135847212 TCTN2 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2135847311 HNF1A Health Risk Likely pathogenic 6 conditions, 6 conditions
RS2135847318 EPS8 Health Risk Pathogenic —
RS2135847381 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3
RS2135847417 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3
RS2135847490 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2135847592 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3
RS2135847863 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2135848297 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2135849050 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
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