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
RS1842385241 CDHR1 Health Risk Pathogenic Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS1842392268 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS1842392331 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Krabbe disease due to saposin A deficiency
RS184241449 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS184242303 PLEKHG5 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS1842448817 FREM1 Health Risk Pathogenic —
RS184247824 PDZD7 Health Risk Conflicting classifications of pathogenicity PDZD7-related disorder, PDZD7-related disorder
RS184249075 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PCARE-related disorder
RS1842534708 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS184253678 VPS13D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS184254184 USF3 Health Risk Conflicting classifications of pathogenicity —
RS1842554749 MYO3A Health Risk Likely pathogenic —
RS1842591499 CUBN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1842600689 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS1842601409 LIPA Health Risk Likely pathogenic Wolman disease, Wolman disease
RS184264157 CLCN4 Health Risk Conflicting classifications of pathogenicity —
RS184264920 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1842678057 NUP188 Health Risk Pathogenic Sandestig-stefanova syndrome, Sandestig-stefanova syndrome
RS184268528 NR3C2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1, Familial cancer of breast
RS184270108 HPSE2 Health Risk Pathogenic Ochoa syndrome, Urofacial syndrome type 1
RS184271025 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1842714308 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS1842729511 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS1842729716 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS1842732796 LIPA Health Risk Pathogenic/Likely pathogenic Wolman disease, Wolman disease
RS1842737894 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1842769868 EHMT1 Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1842776518 LIPA Health Risk Likely pathogenic Wolman disease, Wolman disease
RS1842777072 LIPA Health Risk Pathogenic/Likely pathogenic Wolman disease, Lysosomal acid lipase deficiency
RS1842794747 LIPA Health Risk Pathogenic Wolman disease, Wolman disease
RS184280124 CACNB2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 4
RS184281410 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1842918323 BMPR1A Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Polyposis syndrome
RS1842918742 BLNK Health Risk Likely pathogenic Agammaglobulinemia 4, autosomal recessive
RS1842954041 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS184297107 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS184297154 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS1842975561 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1842977002 KAT6B Health Risk Likely pathogenic —
RS1843006535 NOTCH1 Health Risk Likely pathogenic Hypoplastic left heart syndrome, Hypoplastic left heart syndrome
RS1843015393 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS1843055667 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Aortic valve disease 1
RS184307461 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS184312157 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1843128744 BMPR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS184313837 KRT1 Health Risk Conflicting classifications of pathogenicity —
RS1843150542 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1843152606 NOTCH1 Health Risk Likely pathogenic Hypoplastic left heart syndrome, Adams-Oliver syndrome 5
RS1843175014 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS184319249 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1843215220 NOTCH1 Health Risk Pathogenic Keratoacanthoma, Keratoacanthoma
RS184323010 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS1843232044 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS184324379 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS1843252720 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1843262329 NOTCH1 Health Risk Likely pathogenic Hypoplastic left heart syndrome, Hypoplastic left heart syndrome
RS1843283551 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1843285734 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1843286694 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS184328705 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1843317673 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS184332984 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, RP1L1-related disorder
RS184333910 SLC2A10 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS184334834 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS184339274 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1843413593 NOTCH1 Health Risk Likely pathogenic Aortic valve disease 1, Aortic valve disease 1
RS1843501165 BMPR1A Health Risk Pathogenic —
RS1843504014 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS184350782 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS184351317 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS184351619 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1843621548 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1843623596 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1843627734 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1843628465 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1843628914 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS184363750 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS1843652409 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1843661582 MYO3A Health Risk Likely pathogenic —
RS1843663751 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1843664505 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1843664957 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1843665508 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS184369322 ANKRD26 Health Risk Conflicting classifications of pathogenicity —
RS1843697382 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1843700160 BMPR1A Health Risk Likely pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli
RS1843703913 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS184370809 LACC1 Health Risk Pathogenic Juvenile arthritis due to defect in LACC1, Juvenile arthritis due to defect in LACC1
RS184374078 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS184374817 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS184378202 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Greenberg dysplasia
RS1843823774 DYNC2I1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly
RS184386564 A2ML1 Health Risk Conflicting classifications of pathogenicity Otitis media, susceptibility to
RS184388696 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Familial cancer of breast
RS184391304 GBE1 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease
RS1843914121 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS184394342 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS184394424 FREM1 Health Risk Conflicting classifications of pathogenicity Trigonocephaly 2, Rieger anomaly
RS184398384 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS184399988 COL11A2 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Inborn genetic diseases
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