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
RS2531610056 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531610317 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531610643 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531610962 PCSK1 Health Risk Likely pathogenic —
RS2531615369 KCNN2 Health Risk Likely pathogenic Neurodevelopmental disorder with or without variable movement or behavioral abnormalities, Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
RS2531616793 ADGRV1 Health Risk Pathogenic —
RS2531619389 HSD17B4 Health Risk Likely pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS2531619479 ADGRV1 Health Risk Pathogenic —
RS2531619533 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531619562 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531619631 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531619781 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531628373 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531628522 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531628823 ATP2C1 Health Risk Pathogenic —
RS2531632474 ADGRV1 Health Risk Pathogenic —
RS2531632725 ADGRV1 Health Risk Pathogenic —
RS2531643196 KCNN2 Health Risk Pathogenic Neurodevelopmental disorder with or without variable movement or behavioral abnormalities, Dystonia 34
RS2531643404 KCNN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2531645914 ADGRV1 Health Risk Likely pathogenic ADGRV1-related disorder, ADGRV1-related disorder
RS2531646837 ADGRV1 Health Risk Pathogenic —
RS2531649877 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2531653814 ADGRV1 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2531666315 WDFY3 Health Risk Likely pathogenic Microcephaly 18, primary
RS2531666671 WDFY3 Health Risk Pathogenic Microcephaly 18, primary
RS2531672261 ADGRV1 Health Risk Pathogenic —
RS2531675868 ADGRV1 Health Risk Likely pathogenic —
RS2531676052 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531676170 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531676188 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531676301 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531676328 ADGRV1 Health Risk Pathogenic —
RS2531676357 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531676930 HSD17B4 Health Risk Pathogenic Inborn genetic diseases, Bifunctional peroxisomal enzyme deficiency
RS2531677014 HSD17B4 Health Risk Likely pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS2531679165 ADGRV1 Health Risk Pathogenic —
RS2531690264 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2531693353 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531693459 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531703971 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531704929 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531705048 HSD17B4 Health Risk Likely pathogenic Perrault syndrome 1, Perrault syndrome 1
RS2531705922 ADGRV1 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2531706238 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2531706526 ADGRV1 Health Risk Pathogenic —
RS2531706845 ADGRV1 Health Risk Pathogenic —
RS2531711888 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2531715532 ADGRV1 Health Risk Pathogenic —
RS2531717601 SPINK5 Health Risk Pathogenic —
RS2531720747 ADGRV1 Health Risk Likely pathogenic —
RS2531720943 ADGRV1 Health Risk Pathogenic —
RS2531722094 FEM1C Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2531723063 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531723728 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531724029 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531724043 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531741634 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531741818 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531742054 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531742652 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS2531742851 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2531742954 HSD17B4 Health Risk Pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS2531743142 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531743689 HSD17B4 Health Risk Pathogenic/Likely pathogenic Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS2531744619 IFT122 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2531745043 OBSCN Health Risk Pathogenic —
RS2531750186 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS2531750218 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2531750264 SH3TC2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2531756555 GM2A Health Risk Likely pathogenic Tay-Sachs disease, variant AB
RS2531757415 GM2A Health Risk Likely pathogenic Tay-Sachs disease, variant AB
RS2531757792 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS2531759797 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531759953 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531760272 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS2531770053 ERCC8 Health Risk Pathogenic —
RS2531770358 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2531772249 SH3TC2 Health Risk Pathogenic —
RS2531772287 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2531772821 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2531773136 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS2531773397 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2531773461 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2531773852 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2531774543 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS2531774672 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2531776726 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2531776765 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2531782406 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2531785573 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2C, Febrile seizures
RS2531785752 ADGRV1 Health Risk Pathogenic —
RS2531786446 ADGRV1 Health Risk Pathogenic —
RS2531787615 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS2531787857 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2531788776 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS2531789974 ERCC8 Health Risk Pathogenic —
RS2531790065 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS2531791358 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS2531793055 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS2531795414 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
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