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
RS201519274 LAMC3 Health Risk Pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS201519478 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS201519517 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201519806 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Spinocerebellar ataxia type 29
RS201519839 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201519981 ARHGAP31 Health Risk Conflicting classifications of pathogenicity —
RS201520042 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, de Barsy syndrome
RS201520272 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS201520438 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS201520640 NEFH Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2CC, Inborn genetic diseases
RS201521473 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS201521604 ADGRA3 Health Risk Conflicting classifications of pathogenicity —
RS201521886 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS201522384 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS201522681 RFX6 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
RS201522712 HOMER2 Health Risk Conflicting classifications of pathogenicity —
RS201522866 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS201523118 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, BRAT1-related disorder
RS201523305 LEP Health Risk Conflicting classifications of pathogenicity Obesity due to congenital leptin deficiency, LEP-related disorder
RS201523522 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS201523530 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS201523549 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS201523601 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS201523624 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS201523760 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS201523784 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201524117 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS201525586 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS201525743 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS201525976 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS201525996 FASLG Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Lung cancer
RS201526714 RBPJ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201526979 ABCA12 Health Risk Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS201527155 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS201527181 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS201527437 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS201527496 TSPYL2 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS201527662 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS201527820 NR2F2 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, multiple types
RS201528612 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Hypertrophic cardiomyopathy 15
RS201528777 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201529124 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome
RS201529449 CD3G Health Risk Pathogenic Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS201529683 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201529791 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS201530031 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS201530175 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS201531252 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201531372 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS201531496 PIK3R2 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS201531684 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS201532178 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS201532239 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS201532275 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS201532491 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS201532586 DNAH9 Health Risk Pathogenic —
RS201532589 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS201532915 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS201533042 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS201533045 MME Health Risk Likely pathogenic Peripheral neuropathy, Distal myopathy
RS201533113 FLNB Health Risk Conflicting classifications of pathogenicity —
RS201533137 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS201533156 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS201533471 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS201533738 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS201534221 CNTN1 Health Risk Conflicting classifications of pathogenicity Compton-North congenital myopathy, Inborn genetic diseases
RS201534650 NLGN4X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201534956 CLRN1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3, Usher syndrome type 3A
RS201535432 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS201535699 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS201536400 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS201536450 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201537030 EYA1 Health Risk Conflicting classifications of pathogenicity Branchiootic syndrome 1, Otofaciocervical syndrome 1
RS201537074 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS201537299 EMC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS201537803 PRKCSH Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 1, Polycystic liver disease 1
RS201537906 BCKDHA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS201538200 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS201538331 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201538340 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2S
RS201538482 ITGB4 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 5A
RS201538580 MYO3A Health Risk Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 30
RS201538863 FMN2 Health Risk Conflicting classifications of pathogenicity —
RS201539829 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS201539845 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 11, Rare genetic deafness
RS201540129 DYM Health Risk Pathogenic/Likely pathogenic Dyggve-Melchior-Clausen syndrome, Early-onset non-syndromic cataract
RS201540273 CLCNKB Health Risk Pathogenic Bartter syndrome, Bartter disease type 3
RS201540674 RTEL1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS201540905 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS201540919 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS201541007 LRP1 Health Risk Conflicting classifications of pathogenicity —
RS201541131 PDE6B Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa
RS201541204 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), PEX19-related disorder
RS201541213 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201541240 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201541270 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS201541505 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS201541616 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS201542054 TMPRSS15 Health Risk Conflicting classifications of pathogenicity Enterokinase deficiency, Enterokinase deficiency
RS201542066 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
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