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
RS2146622848 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS2146626308 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2146634231 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS2146638782 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS2146643195 TMEM94 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2146646096 CNOT3 Health Risk Likely pathogenic Intellectual developmental disorder with speech delay, autism
RS2146647668 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146649701 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146652075 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS2146652117 SMARCA4 Health Risk Likely pathogenic —
RS2146653193 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS2146653379 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS2146654092 SMARCA4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 16
RS2146654353 PCNT Health Risk Pathogenic —
RS2146655550 PCNT Health Risk Pathogenic —
RS2146656223 CHKB Health Risk Likely pathogenic See cases, See cases
RS2146656234 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS2146656742 CHKB Health Risk Likely pathogenic Muscular dystrophy, Muscular dystrophy
RS2146658002 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2146658733 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS2146659025 KANSL1 Health Risk Pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2146661259 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2146664115 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS2146664989 VPS16 Health Risk Pathogenic Dystonia 30, Dystonia 30
RS2146666663 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2146667709 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS2146669693 VPS16 Health Risk Pathogenic Dystonia 30, Dystonia 30
RS2146671573 CEP250 Health Risk Pathogenic —
RS2146673211 VPS16 Health Risk Likely pathogenic Dystonia 30, Dystonia 30
RS2146675486 ADGRG2 Health Risk Likely pathogenic Vas deferens, congenital bilateral aplasia of
RS2146678594 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2146684218 GPR143 Health Risk Likely pathogenic —
RS2146684328 GPR143 Health Risk Pathogenic GPR143-related disorder, GPR143-related disorder
RS2146684649 PIGU Health Risk Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 21, Glycosylphosphatidylinositol biosynthesis defect 21
RS2146685691 GPR143 Health Risk Likely pathogenic —
RS2146685694 GPR143 Health Risk Pathogenic —
RS2146685874 GPR143 Health Risk Pathogenic —
RS2146687459 GPR143 Health Risk Likely pathogenic Ocular albinism, type I
RS2146687477 GPR143 Health Risk Pathogenic —
RS2146689449 GPR143 Health Risk Pathogenic —
RS2146689530 GPR143 Health Risk Pathogenic —
RS2146689576 GPR143 Health Risk Pathogenic —
RS2146691632 GPR143 Health Risk Likely pathogenic Ocular albinism, type I
RS2146691974 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2146699322 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2146699547 GPR143 Health Risk Pathogenic —
RS2146699615 GPR143 Health Risk Pathogenic —
RS2146699662 GPR143 Health Risk Likely pathogenic —
RS2146699664 GPR143 Health Risk Pathogenic Ocular albinism, type I
RS2146700764 GPR143 Health Risk Pathogenic Ocular albinism, type I
RS2146700794 GPR143 Health Risk Conflicting classifications of pathogenicity —
RS2146700981 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146701042 GPR143 Health Risk Pathogenic —
RS2146703685 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2146705592 GPR143 Health Risk Likely pathogenic —
RS2146705597 GPR143 Health Risk Pathogenic Nystagmus 6, congenital
RS2146705633 GPR143 Health Risk Pathogenic —
RS2146705785 GPR143 Health Risk Pathogenic —
RS2146705899 GPR143 Health Risk Pathogenic —
RS2146705998 GPR143 Health Risk Pathogenic Ocular albinism, type I
RS2146706023 GPR143 Health Risk Pathogenic —
RS2146706095 GPR143 Health Risk Pathogenic —
RS2146707223 CEP250 Health Risk Pathogenic —
RS2146715075 ALAS2 Health Risk Likely pathogenic X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS2146716548 DNAH17 Health Risk Pathogenic Spermatogenic failure 39, Spermatogenic failure 39
RS2146716603 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146716641 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146716979 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146716994 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146717660 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146717703 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Neurodevelopmental disorder
RS2146717905 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146717919 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146718041 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146718906 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146722676 ALAS2 Health Risk Likely pathogenic —
RS2146722839 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS2146723107 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146723372 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146725299 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146725874 ARSA Health Risk Likely pathogenic —
RS2146726223 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146726825 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146727518 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146728318 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2146731397 ZNFX1 Health Risk Pathogenic Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation
RS2146732210 ZNFX1 Health Risk Pathogenic —
RS2146732308 ZNFX1 Health Risk Pathogenic Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation
RS2146732713 WNT7B Health Risk Pathogenic Matthew-Wood syndrome, Matthew-Wood syndrome
RS2146733599 NLGN4X Health Risk Pathogenic —
RS2146741441 ZNFX1 Health Risk Pathogenic Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation
RS2146742427 ZNFX1 Health Risk Pathogenic Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation
RS2146757484 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Melanoma
RS2146758722 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS2146765756 TRAPPC2 Health Risk Likely pathogenic —
RS2146767502 TLK2 Health Risk Pathogenic Intellectual disability, autosomal dominant 57
RS2146772777 SHANK3 Health Risk Pathogenic See cases, See cases
RS2146772952 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Inborn genetic diseases
RS2146773091 TRAPPC2 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia tarda, X-linked
RS2146775051 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
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