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
RS755835793 OTOF Health Risk Conflicting classifications of pathogenicity —
RS755837040 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS755837357 STAT1 Health Risk Likely pathogenic —
RS755837568 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS755837661 STIL Health Risk Likely pathogenic STIL-related disorder, STIL-related disorder
RS755838887 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS755839325 NALCN Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS755839824 FLG2 Health Risk Conflicting classifications of pathogenicity —
RS755839828 ADGRV1 Health Risk Pathogenic —
RS755840290 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS755840734 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755841293 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS755841584 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Hemolytic uremic syndrome
RS755841847 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS755842633 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS755843695 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS755846997 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS755847154 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS755847664 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS755848026 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS755849032 COL4A3 Health Risk Pathogenic/Likely pathogenic COL4A3-related disorder, Autosomal dominant Alport syndrome
RS755849132 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755849157 USH2A Health Risk Pathogenic —
RS755849719 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS755849745 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS755850268 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Multiple endocrine neoplasia type 2A
RS755850308 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS755850773 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS755851136 BEST1 Health Risk Likely pathogenic —
RS755851369 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS755851980 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS755852977 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS755853362 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS755854964 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS755855285 ERBB3 Health Risk Conflicting classifications of pathogenicity Erythroleukemia, familial
RS755857667 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SAMD9-related disorder
RS755859330 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS755860619 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS755862334 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS755862917 MCPH1 Health Risk Pathogenic Microcephaly 1, primary
RS755862991 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS755863625 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS755864184 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Mastocytosis
RS755866233 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS755866386 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS755866717 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS755867227 PYCR1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Cutis laxa
RS755867377 USH2A Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS755867394 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis
RS755867852 P4HA1 Health Risk Likely pathogenic Congenital disorder of connective tissue, Congenital disorder of connective tissue
RS755867972 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS755868373 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS755868380 SMAD6 Health Risk Pathogenic Abnormal axial skeleton morphology, Radioulnar synostosis
RS755868793 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS755869015 HYCC1 Health Risk Pathogenic/Likely pathogenic Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS755870379 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS755870553 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS755871797 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS755871858 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS755872965 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS755873874 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS755874851 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS755875238 NEB Health Risk Conflicting classifications of pathogenicity —
RS755875951 OTOGL Health Risk Pathogenic —
RS755877218 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS755877503 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS755877926 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS755878230 PKD1 Health Risk Likely pathogenic —
RS755878786 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS755878872 TPP1 Health Risk Pathogenic —
RS755879599 HMOX1 Health Risk Pathogenic —
RS755879795 FLG Health Risk Pathogenic —
RS755880806 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755880828 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS755881820 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS755881880 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS755882799 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS755883373 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS755884284 AGPS Health Risk Conflicting classifications of pathogenicity —
RS755884665 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Inborn genetic diseases
RS755885744 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS755885838 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS755886213 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755887339 CPLANE1 Health Risk Pathogenic —
RS755888731 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755890242 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS755891046 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS755891338 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS755892540 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS755893615 AFG3L2 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS755893677 ADNP Health Risk Conflicting classifications of pathogenicity —
RS755893750 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS755894515 LINS1 Health Risk Pathogenic —
RS755895621 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS755896041 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS755896234 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS755896254 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS755897447 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS755897497 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Bartter syndrome
RS755898039 ATIC Health Risk Likely pathogenic AICA-ribosiduria, AICA-ribosiduria
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