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
RS2499997569 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2499997754 HNF1A Health Risk Pathogenic —
RS2499998234 HNF1A Health Risk Pathogenic —
RS2499998274 HNF1A Health Risk Pathogenic —
RS2499998322 HNF1A Health Risk Pathogenic HNF1A-related disorder, HNF1A-related disorder
RS2499998332 HNF1A Health Risk Pathogenic —
RS2499998409 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2500001248 HNF1A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2500001387 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2500001477 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2500001702 HNF1A Health Risk Pathogenic —
RS2500001875 HNF1A Health Risk Pathogenic —
RS2500002334 HNF1A Health Risk Pathogenic —
RS2500002391 HNF1A Health Risk Pathogenic —
RS2500002688 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2500002756 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3
RS2500004981 HNF1A Health Risk Pathogenic HNF1A-related disorder, HNF1A-related disorder
RS2500005075 HNF1A Health Risk Pathogenic —
RS2500005524 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3
RS2500005690 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS2500007212 IFT81 Health Risk Pathogenic —
RS2500008986 HNF1A Health Risk Pathogenic —
RS2500009157 HNF1A Health Risk Pathogenic —
RS2500009261 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500009433 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2500009853 HNF1A Health Risk Likely pathogenic —
RS2500009918 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3
RS2500010183 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500010393 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2500010485 HNF1A Health Risk Pathogenic HNF1A-related disorder, HNF1A-related disorder
RS2500010501 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2500011110 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500016820 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS2500017861 SCYL2 Health Risk Pathogenic Arthrogryposis multiplex congenita 4, neurogenic
RS2500018615 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500019381 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500054682 HSPB8 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2L, Charcot-Marie-Tooth disease axonal type 2L
RS2500054710 HSPB8 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2L, Myopathy
RS2500060132 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500060504 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500060832 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2500064528 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500065047 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500065308 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500066079 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2500080530 SCYL2 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 4, neurogenic
RS2500096910 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500101115 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500101737 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500106420 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500108266 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500108418 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2500111273 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500111542 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500112677 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500112760 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Senior-Loken syndrome 6
RS2500113822 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500117363 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS2500119265 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500120486 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2500121621 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500121878 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2500121943 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2500143880 KIF21A Health Risk Likely pathogenic Congenital fibrosis of extraocular muscles type 1, Congenital fibrosis of extraocular muscles type 1
RS2500156012 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2500165101 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500167338 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500167535 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500167645 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500168661 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500169079 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500169389 SETD1B Health Risk Pathogenic See cases, See cases
RS2500171362 GJA3 Health Risk Pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500171522 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500173859 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500173980 GJA3 Health Risk Pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500174104 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500174109 GJA3 Health Risk Conflicting classifications of pathogenicity Cataract 14 multiple types, Cataract 14 multiple types
RS2500174168 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500174567 GJA3 Health Risk Pathogenic/Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500174658 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500174794 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS2500176856 ATP2A2 Health Risk Likely pathogenic —
RS2500176996 ATP2A2 Health Risk Pathogenic —
RS2500181159 MIPEP Health Risk Pathogenic —
RS2500182168 SETD1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2500183729 SETD1B Health Risk Pathogenic —
RS2500183969 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500200230 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500200910 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500206106 SLC17A8 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
RS2500206217 PDX1 Health Risk Likely pathogenic PDX1-related disorder, PDX1-related disorder
RS2500206718 PDX1 Health Risk Likely pathogenic PDX1-related disorder, PDX1-related disorder
RS2500206807 PDX1 Health Risk Likely pathogenic Maturity-onset diabetes of the young, Type 2 diabetes mellitus
RS2500212165 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500212621 SETD1B Health Risk Likely pathogenic —
RS2500213316 SETD1B Health Risk Pathogenic SETD1B-related disorder, SETD1B-related disorder
RS2500215214 SETD1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2500215282 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2500219496 SH2B3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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