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
RS145063086 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Focal epilepsy
RS145063408 CFHR1 Health Risk Conflicting classifications of pathogenicity —
RS1450635782 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Leber congenital amaurosis 8
RS145064612 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS1450652793 SLC24A5 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism, Uveal melanoma
RS1450658990 PIEZO2 Health Risk Pathogenic —
RS145065936 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS145066574 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS145066614 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency
RS145067169 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, RECQL-related disorder
RS1450673278 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS145067399 CYP17A1 Health Risk Conflicting classifications of pathogenicity —
RS1450674538 SERPING1 Health Risk Likely pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS145067627 NANS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1450676893 BRAT1 Health Risk Likely pathogenic —
RS145067866 ROBO4 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 3, Familial thoracic aortic aneurysm and aortic dissection
RS145068043 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS1450683528 TPO Health Risk Pathogenic/Likely pathogenic —
RS145068530 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS145068570 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia
RS145068586 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Malignant tumor of breast
RS145069047 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS145072406 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1450725934 CRBN Health Risk Likely pathogenic —
RS1450731316 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1450731543 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS145073736 CSRP3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
RS145073875 TMPRSS6 Health Risk Conflicting classifications of pathogenicity —
RS1450742178 SPR Health Risk Conflicting classifications of pathogenicity Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder
RS1450743199 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS145074455 DNAH9 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS145075161 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1450763362 PTPRQ Health Risk Likely pathogenic PTPRQ-related disorder, PTPRQ-related disorder
RS145077014 PCLO Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 3, PCLO-related disorder
RS1450770782 F8 Health Risk Likely pathogenic —
RS145077404 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS145078268 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Inborn genetic diseases
RS1450783755 CYP1B1 Health Risk Conflicting classifications of pathogenicity Congenital glaucoma, Glaucoma 3A
RS145078518 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Retinal dystrophy
RS145078681 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Hypotrichosis 6
RS1450787086 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1450790879 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1450793674 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS145080072 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS145080512 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS145080707 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS1450807689 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS145081708 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS145081747 DSG1 Health Risk Pathogenic Severe dermatitis-multiple allergies-metabolic wasting syndrome, Palmoplantar keratoderma i
RS145082320 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS145082616 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, 8 conditions
RS1450835871 DONSON Health Risk Pathogenic —
RS1450841129 FKRP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Cardiovascular phenotype
RS145084285 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS1450843506 CIITA Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS145084636 NUP62 Health Risk Conflicting classifications of pathogenicity NUP62-related disorder, NUP62-related disorder
RS145085079 MTMR8 Health Risk Conflicting classifications of pathogenicity —
RS145085349 ASPA Health Risk Likely pathogenic —
RS145085696 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8
RS145086495 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145086947 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Inborn genetic diseases
RS145087265 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS145087575 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS145087576 RYR1 Health Risk Likely pathogenic Muscular dystrophy and arthrogryposis, Malignant hyperthermia
RS145088074 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, RYR1-related disorder
RS145088557 CHM Health Risk Conflicting classifications of pathogenicity Choroideremia, Inborn genetic diseases
RS1450888449 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS145088924 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS145089334 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Inborn genetic diseases
RS145090095 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS145092287 CTPS1 Health Risk Pathogenic Combined immunodeficiency due to CTPS1 deficiency, Papillary renal cell carcinoma type 1
RS145092724 VPS33B Health Risk Conflicting classifications of pathogenicity VPS33B-related disorder, VPS33B-related disorder
RS145092954 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS1450929982 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS145093168 SYP Health Risk Conflicting classifications of pathogenicity —
RS145093233 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS1450937339 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS145093766 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1450949342 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS145095951 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS145097270 SETX Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Amyotrophic lateral sclerosis type 4
RS1450977775 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1450980907 EXT2 Health Risk Pathogenic Exostoses, multiple
RS145098126 POPDC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2X, Autosomal recessive limb-girdle muscular dystrophy type 2X
RS145099391 DCHS1 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 1, Congenital heart disease
RS1450999049 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS145100473 SCO2 Health Risk Conflicting classifications of pathogenicity Myopia 6, Cardioencephalomyopathy
RS145100866 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS1451012329 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH6-related disorder
RS145101354 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS145101532 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS145102151 CIC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS145102275 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS145102433 DDX59 Health Risk Conflicting classifications of pathogenicity DDX59-related disorder, Inborn genetic diseases
RS145102919 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease
RS1451037596 TWNK Health Risk Likely pathogenic mitochondrial hepatopathy, mitochondrial hepatopathy
RS145104355 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS145104409 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS145104612 HARS2 Health Risk Conflicting classifications of pathogenicity —
RS1451049067 SLC12A3 Health Risk Pathogenic —
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