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
RS34324114 NEK1 Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly
RS34324145 OSMR Health Risk Conflicting classifications of pathogenicity OSMR-related disorder, OSMR-related disorder
RS34324426 PEX6 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Peroxisome biogenesis disorder 4A (Zellweger)
RS34328787 SLC39A14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS34330111 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS34331388 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS34336755 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS34337334 DES Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Desmin-related myofibrillar myopathy
RS34337578 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS34338233 PPP1R13L Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS34338935 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS34349517 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS34351119 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS34351171 SLC26A2 Health Risk Conflicting classifications of pathogenicity Diastrophic dysplasia, Atelosteogenesis type II
RS34351746 LIPC Health Risk Conflicting classifications of pathogenicity Hyperlipidemia due to hepatic triglyceride lipase deficiency, Hyperlipidemia due to hepatic triglyceride lipase deficiency
RS34352773 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 10
RS34353618 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS34355967 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS34360255 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS34361146 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS34362143 C5 Health Risk Conflicting classifications of pathogenicity —
RS34363638 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS34364279 IGF1R Health Risk Conflicting classifications of pathogenicity —
RS34365303 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS34365964 FSHB Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
RS34367357 CARD14 Health Risk Benign/Likely benign; association Psoriasis 2, Pityriasis rubra pilaris
RS34371500 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS34371697 TOM1 Health Risk Conflicting classifications of pathogenicity —
RS34374110 CLDN19 Health Risk Conflicting classifications of pathogenicity —
RS34374438 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS34378160 HBB Health Risk Pathogenic HEMOGLOBIN HAMMERSMITH, HEMOGLOBIN CHIBA
RS34381515 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS34382952 SACS Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS34386532 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS34386552 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Inborn genetic diseases
RS34387018 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS34387324 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS34388030 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS34389000 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS34390308 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS34390834 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS34391522 ACOX2 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 6, ACOX2-related disorder
RS34391943 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS34393781 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS34395097 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS34396910 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, ADSL-related disorder
RS34406289 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS34412477 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder
RS34413183 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS34413634 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS34414438 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS34415446 CASQ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS34415548 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS34424986 PRKN Health Risk Pathogenic/Likely pathogenic Autosomal recessive juvenile Parkinson disease 2, Young-onset Parkinson disease
RS34425379 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Cervical cancer
RS34430836 HBD Health Risk Pathogenic; other delta Thalassemia, HEMOGLOBIN A(2) GROVETOWN
RS34432586 CDH23 Health Risk Pathogenic —
RS34439278 HBB Health Risk Conflicting classifications of pathogenicity —
RS34439704 EIF2AK4 Health Risk Conflicting classifications of pathogenicity Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS34445293 PDGFRL Health Risk Conflicting classifications of pathogenicity —
RS34446260 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN HIKARI, HEMOGLOBIN HIKARI
RS34446466 RARS1 Health Risk Conflicting classifications of pathogenicity RARS1-related disorder, Hypomyelinating leukodystrophy 9
RS34446973 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS34447581 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS34451549 HBB Health Risk Pathogenic beta Thalassemia, Beta zero thalassemia
RS34457341 RIPK1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 57, Immunodeficiency 57
RS34457757 HAL Health Risk association Increased histidine, Increased histidine
RS34460089 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS34462126 HOXA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS34462132 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS34464652 RNF43 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Sessile serrated polyposis cancer syndrome
RS34466953 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS34467829 BPNT2 Health Risk Conflicting classifications of pathogenicity Chondrodysplasia with joint dislocations, gPAPP type
RS34470310 STX11 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 4, Inborn genetic diseases
RS34471100 RDX Health Risk Conflicting classifications of pathogenicity —
RS34471889 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS34472250 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS34474104 HBG2 Health Risk Likely pathogenic Cyanosis, transient neonatal
RS34474212 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS34474955 EPCAM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 8
RS34476949 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS34477144 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS34477820 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Colon adenocarcinoma
RS34477959 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS34479952 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS34480732 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS34482255 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Autoinflammatory syndrome
RS34483965 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, Beta-thalassemia HBB/LCRB
RS34484056 HBB Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS34487290 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS34489989 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS34491822 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly, type B1Robinow syndrome
RS34495017 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS34500389 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, HBB-related disorder
RS34502690 HBB Health Risk Pathogenic BETA-PLUS-THALASSEMIA, BETA-PLUS-THALASSEMIA
RS34504069 DPP3 Health Risk Conflicting classifications of pathogenicity —
RS34504204 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS34505698 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS34507711 MTFMT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Combined oxidative phosphorylation defect type 15
RS34509421 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
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