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
RS777315600 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS777315728 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS777316448 VAPB Health Risk Conflicting classifications of pathogenicity Adult-onset proximal spinal muscular atrophy, autosomal dominant
RS777318563 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS777319170 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777319339 SUN2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS777319845 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS777319882 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, GM3 synthase deficiency
RS777320214 SLC34A2 Health Risk Likely pathogenic PULMONARY ALVEOLAR MICROLITHIASIS, PULMONARY ALVEOLAR MICROLITHIASIS
RS777320382 BEST1 Health Risk Pathogenic/Likely pathogenic —
RS777321035 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS777321357 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS777322469 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS777323132 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS777323179 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS777324495 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS777325144 OTOG Health Risk Conflicting classifications of pathogenicity —
RS777325157 ABCC2 Health Risk Pathogenic —
RS777326720 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS777327250 MICU1 Health Risk Conflicting classifications of pathogenicity Proximal myopathy with extrapyramidal signs, Abnormality of the nervous system
RS777328046 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS777328885 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS777330578 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS777332271 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS777333498 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS777333979 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS777334199 MYO15A Health Risk Pathogenic —
RS777334819 PPARG Health Risk Conflicting classifications of pathogenicity Obesity, PPARG-related familial partial lipodystrophy
RS777336157 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS777336258 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS777337698 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS777339684 KMT2C Health Risk Conflicting classifications of pathogenicity KMT2C-related disorder, KMT2C-related disorder
RS777340009 DSP Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS777341485 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS777344869 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS777345151 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS777345393 POLR3A Health Risk Likely pathogenic —
RS777345476 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS777346333 SPATA7 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis 3
RS777347120 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS777347824 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS777349143 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS777349150 COX15 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS777349648 AKAP9 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS777350533 MERTK Health Risk Pathogenic —
RS777351049 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS777351392 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS777351655 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS777352208 OPN1SW Health Risk Conflicting classifications of pathogenicity —
RS777353326 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS777353443 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 4
RS777353565 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS777353823 EDEM3 Health Risk Pathogenic Congenital disorder of glycosylation, type 2v
RS777354267 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS777356335 PLXNA2 Health Risk Conflicting classifications of pathogenicity PLXNA2-related disorder, PLXNA2-related disorder
RS777356809 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS777357385 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS777358650 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS777359273 TTLL5 Health Risk Pathogenic Cone-rod dystrophy 19, Cone-rod dystrophy 19
RS777359423 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS777360011 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777360391 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS777360560 HPDL Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Inborn genetic diseases
RS777361441 CYB5R3 Health Risk Pathogenic METHEMOGLOBINEMIA, TYPE I
RS777361601 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777361888 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS777362026 KDM5B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 65
RS777362050 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS77736285 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS777363517 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS777365068 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS777365335 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS777365708 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2
RS777366131 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS77736715 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS777367269 ENPP1 Health Risk Pathogenic/Likely pathogenic Arterial calcification, generalized
RS777367297 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS777367316 CTNS Health Risk Likely pathogenic Nephropathic cystinosis, Nephropathic cystinosis
RS777369430 AREL1;MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS777369921 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS777370844 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2U, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS777371832 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS777372873 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS777373247 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777373438 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, RASopathy
RS777374626 CDH2 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS777376620 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS777377174 CRB1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 13
RS777377185 AP4M1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS777377414 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS777377431 MLIP Health Risk Likely pathogenic —
RS777378178 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS777378283 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS777379558 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS777379609 TH Health Risk Likely pathogenic —
RS777381107 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS777381307 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS777382930 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS777383109 CLN3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Neuronal ceroid lipofuscinosis
RS777383143 TG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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