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
RS141801816 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Cardiomyopathy
RS141801845 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1418018696 COQ2 Health Risk Conflicting classifications of pathogenicity COQ2-related disorder, Coenzyme Q10 deficiency
RS141802200 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS141802308 NSUN2 Health Risk Conflicting classifications of pathogenicity —
RS141802822 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS141802836 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome
RS141802876 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1418030810 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1418039680 DNMT3A Health Risk Pathogenic —
RS141804012 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS141804618 RAX2 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 11, Age related macular degeneration 6
RS141804752 MTNR1B Health Risk risk factor Diabetes mellitus type 2, susceptibility to
RS141805017 TUBGCP6 Health Risk Conflicting classifications of pathogenicity —
RS141805096 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS141805635 GSR Health Risk Conflicting classifications of pathogenicity —
RS141805918 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS141806165 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, LAMC2-related disorder
RS141806282 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Coffin-Siris syndrome
RS141806715 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS141806947 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Inborn genetic diseases
RS141807337 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS141807661 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS141807746 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS1418085145 PIGG Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 53
RS1418088450 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS141808855 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS141808948 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS141809291 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS141810266 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1418106287 ALPK3 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic 27
RS141810774 DGUOK Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS1418108487 PIGV Health Risk Likely pathogenic —
RS141811556 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS141812464 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa gravis of Herlitz
RS141813053 DCC Health Risk Conflicting classifications of pathogenicity Mirror movements 1, Amenorrhea
RS141813170 CENPE Health Risk Conflicting classifications of pathogenicity —
RS141813304 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS141813907 FECH Health Risk Conflicting classifications of pathogenicity Protoporphyria, erythropoietic
RS141814943 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS1418151948 COL1A2 Health Risk Likely pathogenic —
RS141816048 GLDN Health Risk Likely pathogenic —
RS141816448 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, DBH-related disorder
RS1418164564 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141816832 PCNT Health Risk Pathogenic PCNT-related disorder, PCNT-related disorder
RS141817156 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141817409 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS141818070 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS141818132 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis
RS1418183549 UNC13D Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS141818688 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS141818764 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS1418193014 TCIRG1 Health Risk Pathogenic —
RS1418197645 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS141823269 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS141823760 LAMC3 Health Risk Pathogenic —
RS141823837 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, ABCA4-related disorder
RS141824395 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS1418245706 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS141825151 COL9A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141825182 PLA2G6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Parkinson disease 14, Infantile neuroaxonal dystrophy
RS141826168 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS1418268495 PIK3R2 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS141827305 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS141827488 ATPAF2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
RS1418275818 NR2E3 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1418276828 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS141827822 SLC34A1 Health Risk Likely pathogenic —
RS141828250 UBR1 Health Risk Conflicting classifications of pathogenicity Microcephaly, UBR1-related disorder
RS141828476 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS141828689 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 1
RS141828876 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS141830060 COL9A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141830093 TGM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141830307 COX15 Health Risk Conflicting classifications of pathogenicity Cardioencephalomyopathy, fatal infantile
RS141830680 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome
RS1418310476 TPO Health Risk Pathogenic —
RS141831128 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141831710 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Xanthinuria type II
RS141831783 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS141831869 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS141832148 HPS3 Health Risk Conflicting classifications of pathogenicity HPS3-related disorder, Inborn genetic diseases
RS141832648 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS141834182 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1418347571 LMOD2 Health Risk Likely pathogenic Cardiomyopathy, dilated
RS1418372954 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS1418374583 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS141837529 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Hypertrophic cardiomyopathy 2
RS141837966 GDNF Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS141838633 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1418386669 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS141839189 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases
RS141840001 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS141842144 RASGRP2 Health Risk Conflicting classifications of pathogenicity —
RS141843026 XIRP2 Health Risk Conflicting classifications of pathogenicity XIRP2-related disorder, XIRP2-related disorder
RS1418438946 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS141844033 CPAP Health Risk Conflicting classifications of pathogenicity Seckel syndrome 4, Microcephaly 6
RS141844350 NFKB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141844660 USP45 Health Risk Pathogenic Short stature, Short stature
RS141844705 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
« Prev 1 ... 535 536 537 538 539 540 541 ... 4509 Next »

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

Get Started Free →