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
RS147942393 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS147942579 PPP2R5C Health Risk Conflicting classifications of pathogenicity —
RS147943264 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS147943794 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS147943899 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1479440369 RAG2 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1479443394 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, INPP5E-related disorder
RS1479443954 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa
RS1479445348 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS147945173 UPF3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Syndromic X-linked intellectual disability 14
RS147945181 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Congenital hypothyroidism
RS147945403 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP1-related disorder
RS147945506 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Thyroid cancer
RS1479456289 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS147945634 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS1479457172 FANCF Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group F, Fanconi anemia
RS147945881 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS147946196 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder
RS1479462836 SLC6A8 Health Risk Conflicting classifications of pathogenicity Creatine transporter deficiency, Creatine transporter deficiency
RS147946706 NIN Health Risk Conflicting classifications of pathogenicity —
RS147946775 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological
RS147947287 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS147947402 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Usher syndrome type 2A
RS1479475149 ATP7B Health Risk Conflicting classifications of pathogenicity —
RS1479477078 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KMT2A-related disorder
RS147947821 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS147947903 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1479483693 KCNJ11 Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Type 2 diabetes mellitus
RS147948449 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Autosomal recessive Parkinson disease 14
RS147948478 PRKD1 Health Risk Conflicting classifications of pathogenicity PRKD1-related disorder, PRKD1-related disorder
RS1479487529 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS147948789 CTU2 Health Risk Conflicting classifications of pathogenicity Microcephaly, facial dysmorphism
RS147948835 ERCC6L2 Health Risk Pathogenic Pancytopenia-developmental delay syndrome, Hereditary cancer-predisposing syndrome
RS1479493690 IGHMBP2 Health Risk Pathogenic Distal spinal muscular atrophy, Autosomal recessive distal spinal muscular atrophy 1
RS1479498379 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS147949881 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS147950414 TULP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147950418 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS1479511052 SLC12A1 Health Risk Likely pathogenic Bartter disease type 1, Inborn genetic diseases
RS1479515679 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS147951756 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS147952488 MPV17 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS147952620 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1479527039 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS147952898 PDGFRB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Infantile myofibromatosis
RS147953465 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS147954001 COG5;HBP1 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS147954363 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS147954757 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS147954772 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1479550470 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS147955381 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS147955566 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS1479557022 F13A1 Health Risk Pathogenic F13A1-related disorder, F13A1-related disorder
RS1479561157 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS147956755 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS147956904 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS147956944 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS147957197 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Hepatocellular carcinoma
RS147957747 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS147958141 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS147958315 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, PEX5-related disorder
RS147958833 NSUN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 5
RS1479590458 PLK4 Health Risk Pathogenic —
RS147960130 MTRR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS147960415 IGF1 Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor type 1 deficiency, Growth delay due to insulin-like growth factor type 1 deficiency
RS1479605538 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1479612629 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS147961544 TALDO1 Health Risk Conflicting classifications of pathogenicity Deficiency of transaldolase, Inborn genetic diseases
RS147961615 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS147961725 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS147961923 FMN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FMN2-related disorder
RS147962494 SERPINB6 Health Risk Conflicting classifications of pathogenicity —
RS147962513 KRT74 Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 4, hair/nail type
RS147962776 WARS2 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, mitochondrial
RS147963245 STRC Health Risk Conflicting classifications of pathogenicity STRC-related disorder, Spermatogenic failure 7
RS147963396 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS1479635413 PIDD1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 75
RS147964932 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Wolff-Parkinson-White pattern
RS1479660166 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS147966258 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS147966522 GMPPB Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS147966644 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS147966742 TMEM138 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 16, Joubert syndrome 16
RS1479668615 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS147966959 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Pigmented paravenous retinochoroidal atrophy
RS1479670923 ABCD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Adrenoleukodystrophy
RS147967199 USH1G Health Risk Conflicting classifications of pathogenicity USH1G-related disorder, USH1G-related disorder
RS1479675678 DOCK7 Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS147967974 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS1479684172 MOV10L1 Health Risk Likely pathogenic Spermatogenic failure 73, Non-obstructive azoospermia
RS147969494 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H
RS1479709398 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS147971015 CRYGS Health Risk Conflicting classifications of pathogenicity Cataract 20 multiple types, Inborn genetic diseases
RS147971049 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS147971167 GLT8D1 Health Risk Conflicting classifications of pathogenicity —
RS1479713112 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS147971538 EPRS1 Health Risk Conflicting classifications of pathogenicity —
RS147972030 DGKE Health Risk Pathogenic Immunoglobulin-mediated membranoproliferative glomerulonephritis, Nephrotic syndrome
RS147972150 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
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