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
RS281864956 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS281864961 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281864962 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281864963 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281864964 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Mucolipidosis
RS281864969 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS281864970 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS281864973 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS281864976 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis
RS281864980 GNPTAB Health Risk Pathogenic/Likely pathogenic Pseudo-Hurler polydystrophy, Legg-Calve-Perthes disease
RS281864981 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281864982 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281864983 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281864984 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281864991 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS281864992 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281864996 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281864998 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281864999 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis
RS281865001 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS281865004 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS281865007 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281865009 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281865012 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS281865017 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281865018 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS281865019 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis
RS281865022 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281865023 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281865024 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281865025 GNPTAB Health Risk Likely pathogenic Mucolipidosis III alpha/beta, atypical
RS281865026 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS281865027 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS281865028 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS281865029 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS281865030 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS281865031 GNPTAB Health Risk Pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS281865032 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS281865033 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS281865035 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS281865036 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS281865037 GNPTAB Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS281865038 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS281865039 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Mucolipidosis type II
RS281865060 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease
RS281865061 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Dejerine-Sottas disease
RS281865065 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease
RS281865067 CHRNA4 Health Risk Pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy 1
RS281865070 CHRNB2 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS281865075 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS281865076 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS281865077 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS281865079 HPS1 Health Risk Pathogenic —
RS281865080 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS281865081 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS281865082 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS281865084 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS281865086 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS281865088 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS281865090 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS281865093 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS281865095 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS281865097 HPS4 Health Risk Pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS281865098 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS281865100 HPS4 Health Risk Pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS281865101 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS281865102 HPS5 Health Risk Likely pathogenic —
RS281865103 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS281865104 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS281865105 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS281865107 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS281865108 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome
RS281865110 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS281865112 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS281865113 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS281865114 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS281865115 BLOC1S3 Health Risk Pathogenic Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8
RS281865116 BLOC1S3 Health Risk Pathogenic Hermansky-Pudlak syndrome 8, Hermansky-Pudlak syndrome 8
RS281865117 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS281865118 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS281865119 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS281865120 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS281865121 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 1B, Dejerine-Sottas disease
RS281865123 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS281865124 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS281865125 MPZ Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS281865127 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS281865128 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS281865134 LITAF Health Risk Pathogenic Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease
RS281865135 LITAF Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease
RS281865136 EGR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease
RS281865137 EGR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease
RS281865141 CRYAB Health Risk Pathogenic Myofibrillar myopathy 2, Myofibrillar myopathy 2
RS281865142 CRYAB Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 2, Dilated cardiomyopathy 1II
RS281865144 ZNF469 Health Risk Pathogenic Keratoconus 1, Keratoconus 1
RS281865145 ZNF469 Health Risk Conflicting classifications of pathogenicity Keratoconus 1, Cardiovascular phenotype
RS281865149 ZNF469 Health Risk Conflicting classifications of pathogenicity Keratoconus 1, Ehlers-Danlos syndrome
RS281865150 ZNF469 Health Risk Pathogenic Keratoconus 1, Keratoconus 1
RS281865151 ZNF469 Health Risk Conflicting classifications of pathogenicity Keratoconus 1, Brittle cornea syndrome 1
RS281865152 ZNF469 Health Risk Conflicting classifications of pathogenicity Keratoconus 1, Cardiovascular phenotype
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