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
RS147545000 ZNF225 Health Risk Conflicting classifications of pathogenicity —
RS147545395 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS147545511 APOBEC3B Health Risk Conflicting classifications of pathogenicity APOBEC3B-related condition, APOBEC3B-related condition
RS1475458864 MMADHC Health Risk Likely pathogenic Cobalamin C disease, Methylmalonic aciduria and homocystinuria type cblD
RS147546485 LMO7 Health Risk Conflicting classifications of pathogenicity —
RS147546808 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS147546939 TYR Health Risk Conflicting classifications of pathogenicity —
RS147547509 SPRED1 Health Risk Conflicting classifications of pathogenicity —
RS147548697 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS147548960 OSGEP Health Risk Conflicting classifications of pathogenicity OSGEP-related disorder, OSGEP-related disorder
RS1475492059 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS147550048 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS1475506136 MRE11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS1475508285 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS147551003 DGUOK Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), DGUOK-related disorder
RS147551342 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1475516253 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS147551647 YARS2 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS147552284 SAMD9 Health Risk Conflicting classifications of pathogenicity —
RS147552838 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, H syndrome
RS147553344 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS1475539242 POMGNT1 Health Risk Pathogenic Abnormality of the nervous system, Hydrocephalus
RS147554026 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
RS1475548158 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1475549372 IL17RC Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS1475552802 CFD Health Risk Pathogenic —
RS1475557145 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1475559733 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS147556035 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1475566248 HNF1A Health Risk Likely pathogenic HNF1A-related disorder, Monogenic diabetes
RS1475568526 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3
RS147556993 PEX3 Health Risk Pathogenic —
RS147557169 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS147557621 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1475577009 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1475578735 LTBP4 Health Risk Pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS1475580175 MECOM Health Risk Likely pathogenic Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS147558972 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1475590979 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS147559466 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, See cases
RS147559626 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1
RS147559634 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS147559648 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, NTHL1-related disorder
RS1475598645 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS147560504 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS1475605360 DEPDC5 Health Risk Pathogenic/Likely pathogenic DEPDC5-related disorder, Familial focal epilepsy with variable foci
RS147561570 GLI3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Greig cephalopolysyndactyly syndrome
RS147563157 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS147563277 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS1475632900 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS1475633334 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS147563527 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS147563837 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS147564503 POLH Health Risk Conflicting classifications of pathogenicity —
RS147564718 CFB Health Risk Conflicting classifications of pathogenicity —
RS1475648900 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS147564959 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS147565118 CTNS Health Risk Conflicting classifications of pathogenicity Ocular cystinosis, Nephropathic cystinosis
RS1475658217 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS1475661078 CACNA1D Health Risk Conflicting classifications of pathogenicity Aldosterone-producing adenoma with seizures and neurological abnormalities, Aldosterone-producing adenoma with seizures and neurological abnormalities
RS147566416 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Developmental malformations-deafness-dystonia syndrome
RS1475665992 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Thrombophilia
RS1475670133 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS147567110 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1475672414 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS147567317 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS147567606 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS147567879 F9 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS147568171 PDGFRB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Basal ganglia calcification
RS147568834 KRIT1 Health Risk Conflicting classifications of pathogenicity Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation
RS147569168 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome
RS147569641 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Connective tissue disorder
RS1475696927 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1475702169 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS1475705727 EDAR Health Risk Likely pathogenic Oligodontia, Ectodermal dysplasia
RS147571776 TBC1D8B Health Risk Conflicting classifications of pathogenicity —
RS1475718221 EYA1 Health Risk Pathogenic/Likely pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1475720319 COASY Health Risk Pathogenic Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6
RS147572271 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia
RS147573850 ATF6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147574550 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS147574809 TYR Health Risk Pathogenic Nonsyndromic Oculocutaneous Albinism, Nonsyndromic Oculocutaneous Albinism
RS1475753965 NDUFB10 Health Risk Likely pathogenic Mitochondrial complex I deficiency, Mitochondrial complex I deficiency
RS1475762618 WNT7B Health Risk Likely pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS147576338 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS147576439 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, ATP6V1B1-related disorder
RS147576864 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS1475772376 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS147577332 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS1475779672 MUC16 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS1475789647 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS147579680 DPY19L2 Health Risk Pathogenic Spermatogenic failure 9, Thyroid cancer
RS147579805 RFX5 Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS147580001 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS147580120 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS147580372 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS147580725 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS147580753 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS147580834 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS147580960 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
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