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
RS199937736 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, CHRNG-associated hypo-akinesia disorder of prenatal onset
RS199937850 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS199938221 SP110 Health Risk Pathogenic/Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis
RS199938613 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, ASL-related disorder
RS199938988 SYNE4 Health Risk Conflicting classifications of pathogenicity —
RS199939051 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, MOGS-related disorder
RS199939108 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS199939179 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS199939219 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS199939250 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS199939288 PODXL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199939582 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS199939739 FLNB Health Risk Conflicting classifications of pathogenicity —
RS199939848 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS199939853 SZT2 Health Risk Conflicting classifications of pathogenicity —
RS199939890 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS199940124 SCAPER Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCAPER-related disorder
RS199940188 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS199940492 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS199940702 FRAS1 Health Risk Conflicting classifications of pathogenicity Rieger anomaly, Rieger anomaly
RS199941159 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS199941695 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS199941996 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS199942034 GRIN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome
RS199942159 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS199942544 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS199943048 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS199943075 SCLT1 Health Risk Conflicting classifications of pathogenicity SCLT1-related disorder, SCLT1-related disorder
RS199943206 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS199943270 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS199943332 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS199943498 LRIT3 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS199943712 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS199943748 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS199944673 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS199945338 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS199945391 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS199945435 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS199945436 AKAP8L Health Risk Conflicting classifications of pathogenicity —
RS199945820 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS199945898 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS199945904 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS199946373 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS199946797 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome, WFS1-Related Spectrum Disorders
RS199946945 EYS Health Risk Pathogenic —
RS199946957 C6 Health Risk Pathogenic/Likely pathogenic Complement component 6 deficiency, Complement component 6 deficiency
RS199947197 NEK1 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Amyotrophic lateral sclerosis
RS199947290 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases
RS199947417 ZFYVE19 Health Risk Conflicting classifications of pathogenicity —
RS199947459 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS199947661 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
RS199948010 TUBB1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, isolated
RS199948045 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS199948078 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS199948079 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS199948706 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS199949135 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy 1
RS199949280 MYSM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199950178 MC2R Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS199950267 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS199950802 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS199951150 PCSK1 Health Risk Conflicting classifications of pathogenicity Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS199951156 MCPH1 Health Risk Conflicting classifications of pathogenicity —
RS199951296 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS199951976 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS199951979 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis
RS199951984 GIPC3 Health Risk Conflicting classifications of pathogenicity GIPC3-related disorder, Autosomal recessive nonsyndromic hearing loss 15
RS199952288 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS199952377 WDR35 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia 2, WDR35-related disorder
RS199952414 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS199952824 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS199953230 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS199953320 LMF1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Lipase deficiency
RS199953428 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS199953551 MYO1F Health Risk Conflicting classifications of pathogenicity —
RS199953758 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS199954127 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS199954262 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS199954281 TBC1D4 Health Risk Conflicting classifications of pathogenicity —
RS199954296 RIN2 Health Risk Conflicting classifications of pathogenicity RIN2-related disorder, Inborn genetic diseases
RS199954341 FBXO7 Health Risk Conflicting classifications of pathogenicity Parkinsonian-pyramidal syndrome, Parkinsonian-pyramidal syndrome
RS199954405 ERCC2 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 2, Cerebrooculofacioskeletal syndrome 2
RS199954546 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS199954814 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Pulmonary hypertension
RS199954851 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS199954954 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS199955037 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS199955107 PTH Health Risk Likely pathogenic —
RS199955427 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS199955442 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS199955493 P2RX2 Health Risk Conflicting classifications of pathogenicity —
RS199955501 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS199956437 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS199956740 COL4A3 Health Risk Pathogenic —
RS199956744 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS199956941 UNG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS199957039 REV3L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199957176 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS199957428 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Inborn genetic diseases
RS199957523 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
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