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
RS200737496 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS200737515 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS200737737 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS200737768 C7 Health Risk Conflicting classifications of pathogenicity —
RS200737977 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS200738080 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS200738124 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS200738857 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS200739251 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS200739633 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS200739891 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS200740165 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS200740462 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS200740468 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS200740840 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS200741156 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200741233 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200741294 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200741370 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, Inborn genetic diseases
RS200741577 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS200741645 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS200742016 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200742204 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Inborn genetic diseases
RS200742411 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS200742741 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS200742772 POMK Health Risk Conflicting classifications of pathogenicity Limb-girdle muscular dystrophy due to POMK deficiency, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS200742809 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS200743095 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS200743695 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS200744225 SLC34A3 Health Risk Conflicting classifications of pathogenicity —
RS200744540 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS200744555 DEPDC5 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS200745023 SLC6A19 Health Risk Conflicting classifications of pathogenicity Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS200745148 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS200745191 CAMK2A Health Risk Conflicting classifications of pathogenicity CAMK2A-related disorder, CAMK2A-related disorder
RS200745456 REST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200745877 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS200745936 GRHL2 Health Risk Conflicting classifications of pathogenicity —
RS200746503 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
RS200746707 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS200746947 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS200747013 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS200747486 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS200747934 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS200747973 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS200748323 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS200748623 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SAMD9-related disorder
RS200748731 CD19 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS200748828 NSDHL Health Risk Conflicting classifications of pathogenicity CK syndrome, CK syndrome
RS200748918 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS200748970 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS200749150 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gastric cancer
RS200749169 ARMC12 Health Risk Pathogenic Spermatogenic failure 90, Spermatogenic failure 90
RS200749262 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS200749357 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS200749662 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200749953 GAN Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Giant axonal neuropathy 1
RS200750044 HGSNAT Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 73, Mucopolysaccharidosis
RS200750233 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS200750234 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS200750362 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS200750445 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS200750564 HOXD13 Health Risk Conflicting classifications of pathogenicity 6 conditions, Inborn genetic diseases
RS200750609 NDUFA9 Health Risk Conflicting classifications of pathogenicity NDUFA9-related disorder, Cervical cancer
RS200751011 ITGA3 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 7
RS200751156 WNT10A Health Risk Conflicting classifications of pathogenicity Odonto-onycho-dermal dysplasia, Schöpf-Schulz-Passarge syndrome
RS200751186 ALG11 Health Risk Conflicting classifications of pathogenicity ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS200751269 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200751605 IL7R Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS200751676 BRWD3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 93
RS200751977 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS200752089 CEP78 Health Risk Conflicting classifications of pathogenicity —
RS200752112 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS200752339 ELANE Health Risk Pathogenic Neutropenia, severe congenital
RS200752349 MCM2 Health Risk Conflicting classifications of pathogenicity —
RS200752969 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS200753263 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS200753280 NEXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS200753717 SP110 Health Risk Conflicting classifications of pathogenicity Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS200753815 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS200753921 MLPH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200754053 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS200754249 TNNT2 Health Risk Conflicting classifications of pathogenicity Increased left ventricular wall thickness, Primary familial hypertrophic cardiomyopathy
RS200754925 SLC1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 41
RS200754933 GIGYF2 Health Risk Conflicting classifications of pathogenicity GIGYF2-related disorder, GIGYF2-related disorder
RS200755101 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS200755554 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS200755661 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS200756121 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, LBR-related disorder
RS200756131 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS200756227 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS200756304 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS200756305 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Inborn genetic diseases
RS200756935 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neoplasm of stomach
RS200757074 CNOT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200757145 RSPH3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 32, Inborn genetic diseases
RS200757678 PPARA Health Risk Conflicting classifications of pathogenicity —
RS200757782 NUP133 Health Risk Conflicting classifications of pathogenicity —
RS200758208 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS200758226 KRT85 Health Risk Conflicting classifications of pathogenicity KRT85-related disorder, KRT85-related disorder
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