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
RS1928574753 DCX Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS1928578294 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1928582757 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928583820 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1928592578 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1928595440 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS192861143 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS192863214 ABCC8 Health Risk Pathogenic/Likely pathogenic Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS192863498 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS192864327 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Intellectual disability
RS192869978 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS192876326 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome
RS192877602 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS192879693 TET2 Health Risk Conflicting classifications of pathogenicity TET2-related disorder, TET2-related disorder
RS192880105 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS192880210 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1928842837 HNRNPH2 Health Risk Likely pathogenic Intellectual disability, X-linked
RS192889943 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS192890834 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS192892005 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS192894455 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS192896482 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1928965653 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1928965951 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS192897390 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Dilated cardiomyopathy 1U
RS1928998515 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS1929002470 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, Wieacker-Wolff syndrome
RS1929006117 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, Wieacker-Wolff syndrome
RS1929007323 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, Wieacker-Wolff syndrome
RS192902098 PDX1 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 4, Type 2 diabetes mellitus
RS1929024034 KLHL15 Health Risk Pathogenic Intellectual disability, X-linked 103
RS1929057155 ZC4H2 Health Risk Likely pathogenic —
RS1929057804 ZC4H2 Health Risk Likely pathogenic Wieacker-Wolff syndrome, Wieacker-Wolff syndrome
RS1929070198 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, female-restricted
RS192907397 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis, Retinitis pigmentosa 20
RS192909520 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS192910004 FAT1 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS1929106223 SMARCB1 Health Risk Pathogenic Schwannomatosis, Schwannomatosis
RS1929117983 SMARCB1 Health Risk Pathogenic —
RS192912251 MBTPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS192912733 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 49, Retinitis pigmentosa
RS1929135614 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, female-restricted
RS1929136990 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, Inborn genetic diseases
RS1929150904 PHEX Health Risk Pathogenic —
RS1929155885 PHEX Health Risk Pathogenic —
RS1929158021 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1929191668 FRMD7 Health Risk Pathogenic Nystagmus 1, congenital
RS192919234 TUBGCP6 Health Risk Pathogenic Microcephaly and chorioretinopathy with or without intellectual disability, Microcephaly and chorioretinopathy 1
RS1929193313 FRMD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1929200391 PHEX Health Risk Pathogenic —
RS1929202609 PHEX Health Risk Pathogenic —
RS1929202828 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1929207873 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, female-restricted
RS1929210900 PHEX Health Risk Pathogenic —
RS1929214770 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1929215753 PHEX Health Risk Pathogenic —
RS1929216641 ZC4H2 Health Risk Pathogenic Wieacker-Wolff syndrome, female-restricted
RS1929218157 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1929219058 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1929220357 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS192923161 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS192923495 DHODH Health Risk Conflicting classifications of pathogenicity Miller syndrome, Miller syndrome
RS192924272 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS1929244686 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1929245964 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS192928196 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS192930227 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Dystonia 27
RS1929302971 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1929304640 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS192935024 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS1929354169 CRYBB1 Health Risk Likely pathogenic Cataract 17 multiple types, Cataract 17 multiple types
RS1929376118 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS192942248 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS1929431693 CYBB Health Risk Pathogenic —
RS1929432929 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS192944055 OTOGL Health Risk Conflicting classifications of pathogenicity OTOGL-related disorder, OTOGL-related disorder
RS1929471370 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS192949406 NDUFS1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS1929497736 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1929499524 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1929500338 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1929527785 CYBB Health Risk Likely pathogenic Granulomatous disease, chronic
RS192952800 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS1929531349 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS192954755 ENTPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 64, Clear cell carcinoma of kidney
RS1929563459 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1929577517 ANOS1 Health Risk Likely pathogenic See cases, See cases
RS1929590555 MID1 Health Risk Pathogenic —
RS1929600096 MID1 Health Risk Likely pathogenic X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS1929601378 PI4KA Health Risk Pathogenic Polymicrogyria, perisylvian
RS1929603954 ANOS1 Health Risk Pathogenic Hypogonadotropic hypogonadism 1 with or without anosmia, Hypogonadotropic hypogonadism 1 with or without anosmia
RS192962624 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS192964209 NDUFA10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1929657778 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS1929658430 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS1929660142 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS1929664860 AR Health Risk Pathogenic —
RS1929675709 CRYBA4 Health Risk Likely pathogenic Cataract 23, Cataract 23
RS1929683441 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS192968747 MKKS Health Risk Conflicting classifications of pathogenicity McKusick-Kaufman syndrome, Bardet-Biedl syndrome
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