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
RS141453772 CPT1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS1414538226 POLR3B Health Risk association Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS1414541286 GLDC Health Risk Pathogenic/Likely pathogenic —
RS141455838 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS141456140 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS141456457 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS141457460 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS141457896 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS141458677 CEP55 Health Risk Pathogenic Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Inborn genetic diseases
RS141459368 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1414596849 COL4A4 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1414601779 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS141460735 IGFALS Health Risk Conflicting classifications of pathogenicity Short stature due to primary acid-labile subunit deficiency, Short stature due to primary acid-labile subunit deficiency
RS1414608321 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1414612574 NR2F1 Health Risk Conflicting classifications of pathogenicity —
RS141461351 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome 1
RS1414628117 TGFB3 Health Risk Conflicting classifications of pathogenicity Rienhoff syndrome, Rienhoff syndrome
RS141463026 SLC17A5 Health Risk Conflicting classifications of pathogenicity Sialic acid storage disease, severe infantile type
RS141463032 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS141463153 ATP8B1 Health Risk Conflicting classifications of pathogenicity ATP8B1-related disorder, ATP8B1-related disorder
RS1414632605 CLRN1 Health Risk Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS1414637513 EHMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kleefstra syndrome 1
RS141463861 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Inborn genetic diseases
RS141464453 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS141464909 NPHP3 Health Risk Conflicting classifications of pathogenicity NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1
RS1414649675 EIF2AK3 Health Risk Pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS141465583 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS141465781 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141465951 ADSS1 Health Risk Conflicting classifications of pathogenicity Myopathy, distal
RS141466964 PTH1R Health Risk Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia
RS141467566 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Alternating hemiplegia of childhood 1
RS141467694 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS1414678698 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS141467923 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ATP6V0A2-related disorder
RS1414679955 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS141468012 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy
RS1414684440 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1414695401 ASCC3 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 81
RS1414696397 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS141471029 POLR1C Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11, Hearing impairment
RS141471091 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS141472136 CENPF Health Risk Conflicting classifications of pathogenicity —
RS141472681 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS141472847 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS1414730937 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS141473119 F12 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 3, Factor XII deficiency disease
RS141473515 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1414735771 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS141473691 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS141474168 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Inborn genetic diseases
RS1414742926 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, ATP1A2-related disorder
RS141474796 CRYGC Health Risk Likely pathogenic —
RS141475629 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS141475702 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, Inborn genetic diseases
RS141476240 COX20 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS141476300 FYCO1 Health Risk Conflicting classifications of pathogenicity FYCO1-related disorder, FYCO1-related disorder
RS1414763157 PAPPA2 Health Risk Pathogenic —
RS141476528 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
RS141476635 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141476898 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS141477172 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS141477248 STRA6 Health Risk Conflicting classifications of pathogenicity Matthew-Wood syndrome, Matthew-Wood syndrome
RS141477666 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related Meckel-like syndrome
RS141477764 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS141479621 GATA1 Health Risk Conflicting classifications of pathogenicity GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS141479751 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS141480813 AIRE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polyglandular autoimmune syndrome
RS141480996 DMP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS141481210 COX10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS141481390 ZNF335 Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism due to ZNF335 deficiency, Inborn genetic diseases
RS141481633 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS141482636 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Inborn genetic diseases
RS141482808 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS141483578 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS141484061 SKIC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141484643 POLR3A Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS141485067 STARD8 Health Risk Conflicting classifications of pathogenicity —
RS141485649 POC1B Health Risk Conflicting classifications of pathogenicity POC1B-related disorder, POC1B-related disorder
RS141486298 NGF Health Risk Conflicting classifications of pathogenicity Congenital sensory neuropathy with selective loss of small myelinated fibers, Inborn genetic diseases
RS141486562 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS141486741 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS141487068 STX11 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 4, Inborn genetic diseases
RS141487769 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1414878464 ADGRV1 Health Risk Likely pathogenic Lung cancer, Lung cancer
RS1414881033 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia
RS1414881768 GTPBP3 Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS141488333 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141488398 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1414888414 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Senior-Loken syndrome 4
RS141489541 MRPS14 Health Risk Conflicting classifications of pathogenicity —
RS141489669 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS141490945 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS1414913269 CPLANE1 Health Risk Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS141491586 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases
RS141492002 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS141493373 APTX Health Risk Conflicting classifications of pathogenicity Ataxia, early-onset
RS1414935620 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS141495471 THRB Health Risk Conflicting classifications of pathogenicity Thyroid hormone resistance, generalized
RS141495709 SON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1414961716 NAF1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis, Pulmonary fibrosis
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