SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS916713081 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS916725028 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS916754925 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS916755482 FOXE3 Health Risk Conflicting classifications of pathogenicity Congenital primary aphakia, Anterior segment dysgenesis
RS916775904 PUS7 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with abnormal behavior, microcephaly
RS916833024 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS916834956 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS916841534 TMEM151A Health Risk Pathogenic Episodic kinesigenic dyskinesia 3, Episodic kinesigenic dyskinesia 3
RS916844425 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS916862604 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS916869052 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS916882897 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS916890735 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS916922696 KARS1 Health Risk Likely pathogenic —
RS916937983 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS916946765 VPS13C Health Risk Pathogenic —
RS916966344 MMP20 Health Risk Pathogenic Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2
RS917019589 SKIC2 Health Risk Likely pathogenic —
RS917027829 CSF1R Health Risk Pathogenic Inborn genetic diseases, Brain abnormalities
RS917070773 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS917105846 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS917132143 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS917175304 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS917180192 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS917205971 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS917257652 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS917265670 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS917280846 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS917285990 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS917348091 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS917371150 NDUFA10 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS917390877 PIK3C2A Health Risk Pathogenic —
RS917404097 TMEM138 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 16, Joubert syndrome and related disorders
RS917452697 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS917453243 WDR87 Health Risk Conflicting classifications of pathogenicity —
RS917466219 HEATR3 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia 21
RS917493455 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS917505107 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS917523269 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS917541931 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS917547961 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS917551080 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS917552239 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS917607255 LHCGR Health Risk Likely pathogenic LHCGR-related disorder, LHCGR-related disorder
RS917630768 CTNS Health Risk Pathogenic Nephropathic cystinosis, Ocular cystinosis
RS917638291 EDAR Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS917650159 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS917654500 PTPN4 Health Risk Likely pathogenic —
RS917659377 COL2A1 Health Risk Likely pathogenic —
RS917667192 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS917686425 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS917744011 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS917821437 RBP3 Health Risk Conflicting classifications of pathogenicity —
RS917843581 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS917868982 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS917888974 CP;HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS917893164 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS917901663 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS917909647 DNAH9 Health Risk Likely pathogenic —
RS917921060 PLCD1 Health Risk Pathogenic —
RS917933038 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS917968387 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS917981474 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 2
RS917988282 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS918013766 MYO6 Health Risk Likely pathogenic —
RS918038911 SEC24D Health Risk Pathogenic —
RS918046091 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS918073945 TUFM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS918089359 INF2 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS918108896 RNPC3 Health Risk Pathogenic Isolated growth hormone deficiency, type 5
RS918147589 GUCY2D Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS918158750 MTPAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic ataxia 4
RS918165496 CIC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS918170054 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS918184529 REL Health Risk Pathogenic —
RS918228674 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS918252164 SETD2 Health Risk Conflicting classifications of pathogenicity —
RS918289557 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS918313461 KCNB1 Health Risk Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS918323808 NUP107 Health Risk Likely pathogenic —
RS918324226 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS918352190 POC1A Health Risk Likely pathogenic Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
RS918353878 MYO7A Health Risk Likely pathogenic Meniere disease, Meniere disease
RS918359479 ERCC6L2 Health Risk Pathogenic —
RS918363787 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS918394135 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Neurodevelopmental delay
RS918395100 DNAJB2 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS918403472 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS918406652 CFD Health Risk Pathogenic —
RS918413316 SETD1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS918420911 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS918426003 TMPRSS6 Health Risk Pathogenic/Likely pathogenic Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia
RS918428666 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS918437272 PC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pyruvate carboxylase deficiency
RS918463518 FBRSL1 Health Risk Conflicting classifications of pathogenicity —
RS918473867 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS918508213 PLCE1 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 3
RS918520562 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS918526484 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS918544320 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
« Prev 1 ... 3969 3970 3971 3972 3973 3974 3975 ... 4010 Next »

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

Get Started Free →