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
RS141889567 LRP5 Health Risk Conflicting classifications of pathogenicity Osteoporosis with pseudoglioma, LRP5-related disorder
RS141889707 RFX5 Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS141890160 VPS13C Health Risk Conflicting classifications of pathogenicity —
RS141890870 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Inborn genetic diseases
RS1418915670 ABHD12 Health Risk Likely pathogenic —
RS1418921410 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1418922853 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS141892620 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS141893001 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS1418930514 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS141893504 SEMA3D Health Risk Conflicting classifications of pathogenicity Aganglionic megacolon, SEMA3D-related disorder
RS141894081 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS141894939 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, DOCK2-related disorder
RS1418957582 TRMT10A Health Risk Likely pathogenic —
RS141895894 SLC1A4 Health Risk Conflicting classifications of pathogenicity SLC1A4-related disorder, SLC1A4-related disorder
RS1418959797 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS141895982 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS141896077 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS141896314 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Occipital pachygyria and polymicrogyria
RS1418965797 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS141898386 ZBTB20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141898557 ERCC8 Health Risk Pathogenic —
RS141899271 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, Hecht syndrome
RS1418997146 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS141900642 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS141901178 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1419012591 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS141901506 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Inborn genetic diseases
RS141901540 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DCHS1-related disorder
RS141901570 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, LAMC2-related disorder
RS1419019482 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS1419023919 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1419030713 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS141903179 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1419032418 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS141903506 MYO3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141903513 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1419041613 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS141904298 MAGED2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141904662 MKI67 Health Risk Conflicting classifications of pathogenicity MKI67-related disorder, MKI67-related disorder
RS141905183 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS141905538 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS1419062047 HSPG2 Health Risk Likely pathogenic Lethal Kniest-like syndrome, Lethal Kniest-like syndrome
RS1419063255 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS141906397 PSAP Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Krabbe disease due to saposin A deficiency
RS1419070784 INSR Health Risk Likely pathogenic —
RS1419080369 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1419081031 ENPP1 Health Risk Pathogenic —
RS141909058 SCNN1B Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS1419090736 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS1419091884 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome
RS141909224 VPS25 Health Risk Conflicting classifications of pathogenicity VPS25-related neurodevelopmental delay, VPS25-related neurodevelopmental delay
RS141909291 ABCG8 Health Risk Pathogenic —
RS1419095990 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Aortic valve disease 2
RS1419099088 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS141910004 PLEKHG2 Health Risk Conflicting classifications of pathogenicity —
RS141911166 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS141911199 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Intellectual disability
RS141911213 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS141911573 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS141912087 NSUN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 5
RS141912603 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS1419127345 VPS13A Health Risk Pathogenic —
RS141912810 RB1CC1 Health Risk Conflicting classifications of pathogenicity —
RS1419128565 SIGMAR1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2
RS1419129874 FARSB Health Risk Pathogenic Cirrhosis of liver, Cerebral calcification
RS141913727 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS1419141450 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS141914419 LAMA1 Health Risk Conflicting classifications of pathogenicity Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Inborn genetic diseases
RS1419144846 PTPRQ Health Risk Pathogenic —
RS1419151341 SLC12A1 Health Risk Pathogenic —
RS1419155559 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS141915593 CTSF Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases
RS1419157426 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS141916070 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141916105 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141916243 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1419167361 ERCC4 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group F
RS1419169954 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS141917910 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, ST3GAL5-related disorder
RS1419180532 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS141918432 FKTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS141918703 LAMC3 Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, Colon adenocarcinoma
RS1419188316 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS141919148 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS141919268 ROM1 Health Risk Conflicting classifications of pathogenicity —
RS141919506 RBFOX1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, RBFOX1-related disorder
RS141920055 TRAF3 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS1419213790 PEX5 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 2B, Rhizomelic chondrodysplasia punctata type 5
RS141921797 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS141922371 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS1419232670 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS141924917 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, FOXI1-related disorder
RS141925310 SYN1 Health Risk Likely pathogenic —
RS1419254389 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS141925556 EBP Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata 2 X-linked dominant, EBP-related disorder
RS141925790 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1419259096 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS1419269417 ABCC8 Health Risk Likely pathogenic —
RS141927805 GNPTAB Health Risk Conflicting classifications of pathogenicity Pseudo-Hurler polydystrophy, Mucolipidosis type II
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