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
RS373160858 CHST6 Health Risk Conflicting classifications of pathogenicity Macular corneal dystrophy, CHST6-related disorder
RS373161548 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS373162171 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS373162382 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS373163994 FANCM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS373164247 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS373164723 CEP250 Health Risk Pathogenic —
RS373165011 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS373165304 CLCNKB Health Risk Conflicting classifications of pathogenicity Bartter disease type 3, Bartter disease type 4B
RS373166152 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS373167735 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS373168257 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS373168555 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS373168798 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TTN-related disorder
RS373169150 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS373169422 MYO7A Health Risk Likely pathogenic Rare genetic deafness, Usher syndrome type 1B
RS373169526 KRAS Health Risk Conflicting classifications of pathogenicity Cardio-facio-cutaneous syndrome, Cardiovascular phenotype
RS373170458 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS373172185 SCN5A Health Risk Pathogenic —
RS373172332 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS373172640 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS373172891 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, L2HGDH-related disorder
RS373173586 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Joubert syndrome 8
RS373173968 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373174008 ERCC8 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 1, Cockayne syndrome type 1
RS373174326 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, SLC45A2-related disorder
RS3731746 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373174786 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS3731753 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373175308 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS373176089 SLC3A1 Health Risk Pathogenic Cystine urolithiasis, Cystine urolithiasis
RS373176644 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS373177231 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS373177574 LAMA5 Health Risk Conflicting classifications of pathogenicity —
RS373178636 FTL Health Risk Conflicting classifications of pathogenicity Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts
RS373178770 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS373178892 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Inborn genetic diseases
RS373178978 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS373179717 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373180788 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS373180876 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, ANKRD11-related disorder
RS373181158 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, NTRK1-related disorder
RS373181939 SLC33A1 Health Risk Conflicting classifications of pathogenicity SLC33A1-related disorder, Inborn genetic diseases
RS373182062 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS373182378 GUCY1A1 Health Risk Pathogenic Moyamoya disease with early-onset achalasia, Moyamoya disease 1
RS373182673 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS373182816 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, LONP1-related disorder
RS373183462 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, Inborn genetic diseases
RS373183802 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS373184762 DUT Health Risk Likely pathogenic Bone marrow failure and diabetes mellitus syndrome, Bone marrow failure and diabetes mellitus syndrome
RS373184968 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS373185353 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373186765 DPF2 Health Risk Pathogenic —
RS373186884 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS373187237 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS373187583 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3B
RS373187796 CLCNKA Health Risk Likely pathogenic Bartter disease type 4B, Bartter disease type 4B
RS373190026 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS373190270 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS373190423 SLC25A19 Health Risk Conflicting classifications of pathogenicity Amish lethal microcephaly, Amish lethal microcephaly
RS373190458 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS373190681 USH2A Health Risk Pathogenic Retinitis pigmentosa, Hearing impairment
RS373190699 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS373191549 EXOSC3 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS373192520 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS373193482 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS373193953 KRT9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373196573 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373197206 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Trigonocephaly 2
RS373197800 HINT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
RS373197894 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS373198092 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Inborn genetic diseases
RS373198476 KCNJ1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS373198570 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, MERTK-related disorder
RS373198842 MMACHC Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Cobalamin C disease
RS373198856 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS373199401 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS373200654 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, PHARC syndrome
RS373201245 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS373201488 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS373201651 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS373201722 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS373202198 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
RS373202724 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS373203204 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS373203286 KRT83 Health Risk Conflicting classifications of pathogenicity Monilethrix, Monilethrix
RS373203358 TRPM1 Health Risk Likely pathogenic —
RS373203368 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS373203481 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS373203896 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS373204179 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS373204728 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS373204984 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS373206096 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS373207084 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS373208120 CLRN1 Health Risk Pathogenic Usher syndrome type 3A, Retinitis pigmentosa 61
RS373208457 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS373208804 FBXO11 Health Risk Conflicting classifications of pathogenicity —
RS373209496 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS373210484 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
« Prev 1 ... 2706 2707 2708 2709 2710 2711 2712 ... 4509 Next »

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

Get Started Free →