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
RS200984500 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS200984695 DHCR7 Health Risk Conflicting classifications of pathogenicity Microcephaly, Smith-Lemli-Opitz syndrome
RS200984998 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Connective tissue disorder
RS200985182 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus
RS200985584 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS200985706 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200985912 SCNN1G Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS200985982 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS200986136 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS200986300 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS200986371 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 4C
RS200986386 JPH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200987019 FREM1 Health Risk Conflicting classifications of pathogenicity —
RS200988021 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis
RS200988207 CHST3 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS200988515 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, MYH14-related disorder
RS200988634 OTOA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 22, Rare genetic deafness
RS200988915 DLL3 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 1, autosomal recessive
RS200989342 RINT1 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS200989423 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS200989933 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS200990309 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS200990725 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS200990767 MPRIP Health Risk Conflicting classifications of pathogenicity —
RS200991250 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, MYO5B-related disorder
RS200991366 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Wolcott-Rallison dysplasia
RS200991784 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS200991790 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS200992277 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS200992340 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200992550 ADAT3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADAT3-related disorder
RS200992566 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS200992636 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200992827 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS200992945 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS200992970 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS200993053 TOR1AIP1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS200993187 COL2A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Stickler syndrome type 1
RS200993763 DLC1 Health Risk Conflicting classifications of pathogenicity —
RS200993927 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200993986 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Connective tissue disorder
RS200993994 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS200994058 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS200994482 SLCO1B1 Health Risk Likely pathogenic See cases, Hepatocellular carcinoma
RS200994810 SYNE4 Health Risk Conflicting classifications of pathogenicity —
RS200995117 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS200995168 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS200996053 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS200996095 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, NLRP12-related disorder
RS200996196 LAMA1 Health Risk Conflicting classifications of pathogenicity —
RS200996822 RP1L1 Health Risk Conflicting classifications of pathogenicity —
RS200996902 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200997003 TRIM32 Health Risk Conflicting classifications of pathogenicity Sarcotubular myopathy, Bardet-Biedl syndrome
RS200997062 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS200997384 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS200997496 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Epidermolysis bullosa simplex with nail dystrophy
RS200997641 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200997703 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS200998047 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS200998174 OTOG Health Risk Conflicting classifications of pathogenicity —
RS200998506 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, LBR-related disorder
RS200998513 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS200998587 RBPJL Health Risk risk factor Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS200999813 GPAA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201000414 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201000679 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS201001000 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 10, Retinal dystrophy
RS201001168 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201001193 NAA15 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS201001705 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS201001790 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS201002218 TAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201002280 MME Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia 43
RS201002358 OTOA Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 22
RS201002833 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS201002908 COX15 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS201002953 FREM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201003227 IMPG1 Health Risk Conflicting classifications of pathogenicity —
RS201003473 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS201003494 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS201003932 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Inborn genetic diseases
RS201003955 AXL Health Risk Conflicting classifications of pathogenicity —
RS201004111 APC Health Risk Conflicting classifications of pathogenicity Colorectal adenoma, Hereditary cancer-predisposing syndrome
RS201004195 GABRB3 Health Risk Pathogenic Developmental and epileptic encephalopathy, 43
RS201004255 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS201004645 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS201004766 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201004985 VIPAS39 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS201005813 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201006021 CYP4V2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201006462 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS201006627 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS201006742 COL18A1 Health Risk Conflicting classifications of pathogenicity COL18A1-related disorder, Inborn genetic diseases
RS201006776 NADSYN1 Health Risk Conflicting classifications of pathogenicity Vertebral, cardiac
RS201007090 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Abnormal bleeding
RS201007237 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201007411 GMNN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201007778 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Hearing impairment
RS201008146 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS201008196 TRIOBP Health Risk Conflicting classifications of pathogenicity —
« Prev 1 ... 1455 1456 1457 1458 1459 1460 1461 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →