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
RS764095900 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS764096773 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS764097337 CYLD Health Risk Conflicting classifications of pathogenicity Brooke-Spiegler syndrome, Familial multiple trichoepitheliomata
RS764097983 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS764100025 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS764100439 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS764100516 CHSY1 Health Risk Conflicting classifications of pathogenicity Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
RS764101138 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764103060 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS764103256 DMRT3 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS76410435 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS764105296 ALOX12B Health Risk Likely pathogenic —
RS764106639 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS764107333 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS764107355 HAMP Health Risk Likely pathogenic —
RS764108297 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS76410834 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS764109067 ARL13B Health Risk Pathogenic/Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome 8
RS764109533 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 56
RS764110569 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS764111837 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS764111950 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS764112241 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS764113446 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS764113584 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS764113705 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS764115258 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Seizures
RS764118184 KIAA0586 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS764118613 RAD21 Health Risk Likely pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS764119686 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS764119764 PANK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764120517 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS764121005 EFTUD2 Health Risk Conflicting classifications of pathogenicity Mandibulofacial dysostosis-microcephaly syndrome, Inborn genetic diseases
RS764121307 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS764121311 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS764121323 NEU1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764122274 GDF5 Health Risk Pathogenic/Likely pathogenic 9 conditions, 9 conditions
RS764122619 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS764122657 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS764123241 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS764123669 NADSYN1 Health Risk Pathogenic/Likely pathogenic Vertebral, cardiac
RS764124390 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS764124442 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS764125009 FKTN Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS764125338 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS764125510 ABCB11 Health Risk Pathogenic Familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS764126853 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS764127291 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS764127754 GFM2 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 39, Combined oxidative phosphorylation deficiency 39
RS764127814 CPLANE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764127932 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS764128579 LOXHD1 Health Risk Conflicting classifications of pathogenicity —
RS764129741 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 2
RS764130442 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS764131178 ATP7B Health Risk Pathogenic Wilson disease, Inborn genetic diseases
RS764132839 HNF1B Health Risk Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS764132853 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS764132899 RPL15 Health Risk Conflicting classifications of pathogenicity —
RS764133411 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS764133797 PHKB Health Risk Pathogenic PHKB-related disorder, Glycogen storage disease IXb
RS764134388 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764134891 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS764137081 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764138752 LRP5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LRP5-related disorder
RS764139968 ZNF469 Health Risk Pathogenic/Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS76414035 TPM2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS764140399 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS764140840 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS764141450 CYP27B1 Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets, type 1
RS764142151 NRL Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS764142194 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS764142241 ATF6 Health Risk Likely pathogenic Achromatopsia, Achromatopsia
RS764143249 PKLR Health Risk Pathogenic —
RS764143976 KCNJ11 Health Risk Pathogenic —
RS764144130 RYR2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS764144206 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS764144407 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS764146079 JAG2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, limb-girdle
RS764146326 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS764146823 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS764147237 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS764148793 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS764148985 NOTCH3 Health Risk Conflicting classifications of pathogenicity See cases, NOTCH3-related disorder
RS764149433 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS764149816 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS764149889 IL17RD Health Risk Conflicting classifications of pathogenicity —
RS764150061 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS764150279 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS764150659 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS764150912 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS764152134 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS764152659 APC Health Risk Conflicting classifications of pathogenicity Classic or attenuated familial adenomatous polyposis, Familial adenomatous polyposis 1
RS764153192 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS764153521 TECTA Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 21
RS764154157 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS764154647 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS764155137 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764156081 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS764156386 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS764156696 FANCB Health Risk Conflicting classifications of pathogenicity VACTERL association, X-linked
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