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
RS1560264167 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1560264293 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1560264395 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1560264452 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1560264973 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS1560265435 ECM1 Health Risk Pathogenic Lipid proteinosis, Lipid proteinosis
RS1560266014 ECM1 Health Risk Pathogenic —
RS1560267428 ECM1 Health Risk Pathogenic Lipid proteinosis, Lipid proteinosis
RS1560274093 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1560274243 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1560274283 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1560277554 TP63 Health Risk Pathogenic Orofacial cleft 8, Orofacial cleft 8
RS1560283028 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1560289791 ADAMTSL4 Health Risk Pathogenic —
RS1560301690 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1560302636 ADAMTSL4 Health Risk Pathogenic —
RS1560303919 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560304529 ADAMTSL4 Health Risk Pathogenic —
RS1560310917 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS1560311010 TP63 Health Risk Pathogenic Premature ovarian insufficiency, Premature ovarian failure 21
RS1560311554 TP63 Health Risk Likely pathogenic Limb-mammary syndrome, Limb-mammary syndrome
RS1560313832 PIGG Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 53
RS1560315890 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1560323242 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1560327427 OPA1;OPA1-AS1 Health Risk Pathogenic Optic atrophy, Autosomal dominant optic atrophy classic form
RS1560329339 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1560330387 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1560336118 SEPSECS Health Risk Pathogenic —
RS1560336134 SEPSECS Health Risk Pathogenic —
RS1560340266 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1560340993 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1560347618 P3H2 Health Risk Pathogenic —
RS1560348513 P3H2 Health Risk Pathogenic —
RS1560365123 OPA1 Health Risk Pathogenic —
RS1560377736 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Inborn genetic diseases
RS1560380226 OPA1 Health Risk Likely pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS1560383746 TMEM165 Health Risk Likely pathogenic —
RS1560392160 OPA1 Health Risk Pathogenic —
RS1560394912 PIGG Health Risk Likely pathogenic Intellectual disability, autosomal recessive 53
RS1560395607 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1560398348 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560408865 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Optic atrophy
RS1560414254 DOCK3 Health Risk Pathogenic Neurodevelopmental disorder with impaired intellectual development, hypotonia
RS1560414379 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1560414398 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1560417385 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1560417396 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1560417427 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1560417438 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1560417535 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1560417642 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1560417666 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1560417673 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1560417758 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1560418164 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1560418178 KIT Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Piebaldism
RS1560418384 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1560419312 KIT Health Risk Likely pathogenic Piebaldism, Piebaldism
RS1560419631 WFS1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 6, Type 2 diabetes mellitus
RS1560419651 WFS1 Health Risk Likely risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS1560420761 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1560421124 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, Wolfram-like syndrome
RS1560421457 WFS1 Health Risk Pathogenic/Likely pathogenic Cataract 41, Autosomal dominant nonsyndromic hearing loss 6
RS1560422046 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1560422132 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS1560422383 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Cataract 41
RS1560425213 CEP135 Health Risk Pathogenic —
RS1560425301 CEP135 Health Risk Likely pathogenic Microcephaly 8, primary
RS1560425399 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS1560433104 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1560449207 PROM1 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS1560465524 PHOX2B Health Risk Pathogenic —
RS1560465785 PHOX2B Health Risk Likely pathogenic Aganglionic megacolon, Aganglionic megacolon
RS1560466246 PHOX2B Health Risk Conflicting classifications of pathogenicity Congenital central hypoventilation, Congenital central hypoventilation
RS1560477489 DSPP Health Risk Pathogenic Dentinogenesis imperfecta type 2, DSPP-related disorder
RS1560478758 DSPP Health Risk Pathogenic Pulp calcification, Pulp calcification
RS1560480632 DSPP Health Risk Pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2
RS1560492942 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1560499498 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1560500587 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1560501974 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1560513651 TTN Health Risk Pathogenic Congenital titinopathy, Early-onset myopathy with fatal cardiomyopathy
RS1560529237 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS1560530550 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS1560531755 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1560532624 PROM1 Health Risk Likely pathogenic Retinitis pigmentosa 41, Retinitis pigmentosa 41
RS1560541088 WDR19 Health Risk Likely pathogenic —
RS1560542180 SMARCAD1 Health Risk Pathogenic Keratoderma with scleroatrophy of the extremities, Keratoderma with scleroatrophy of the extremities
RS1560542214 SMARCAD1 Health Risk Likely pathogenic Keratoderma with scleroatrophy of the extremities, Keratoderma with scleroatrophy of the extremities
RS1560544979 TET2 Health Risk Pathogenic —
RS1560545883 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS1560546604 CFI Health Risk Likely pathogenic/Likely pathogenic, low penetrance CFI-related disorder, CFI-related disorder
RS1560546897 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1560556892 GRID2 Health Risk Likely pathogenic —
RS1560557536 WDR19 Health Risk Likely pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS1560558455 ODAPH Health Risk Likely pathogenic Amelogenesis imperfecta hypomaturation type 2A4, ODAPH-related disorder
RS1560562630 ODAPH Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A4, Amelogenesis imperfecta hypomaturation type 2A4
RS1560562738 ODAPH Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A4, Amelogenesis imperfecta hypomaturation type 2A4
RS1560567337 PPP3CA Health Risk Pathogenic Arthrogryposis, cleft palate
RS1560567347 PPP3CA Health Risk Pathogenic Arthrogryposis, cleft palate
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