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
RS764789266 GPT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764789298 DMD Health Risk Pathogenic Abnormality of the musculature, Dilated cardiomyopathy 3B
RS764789542 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS764790770 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS764791523 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Inborn genetic diseases
RS764791575 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS764792306 LOC130000832;SPAG1;VPS13B Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS764792608 RMI1 Health Risk Likely pathogenic Colorectal cancer, Colorectal cancer
RS764792655 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS764793347 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS764793623 CLCN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy
RS764795457 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS764795648 RIPOR2 Health Risk Conflicting classifications of pathogenicity RIPOR2-related disorder, RIPOR2-related disorder
RS764797225 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS764797292 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS764798214 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cervical cancer
RS764798990 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS764801122 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS764801717 ROBO3 Health Risk Pathogenic Gaze palsy, familial horizontal
RS764802895 GOSR2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS764804589 PDHX Health Risk Conflicting classifications of pathogenicity —
RS764804647 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS764804961 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1D, Cardiomyopathy
RS764805516 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS764805645 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS764806176 CC2D2A Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS764807072 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764807307 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS764808511 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS764808552 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS764808999 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS764809572 FBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital contractural arachnodactyly
RS764811525 COL6A3 Health Risk Conflicting classifications of pathogenicity —
RS764812763 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
RS764813110 DNAJB2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS764813626 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764814250 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS764814296 LOC101928008;SBF2 Health Risk Likely pathogenic —
RS764815033 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS764816440 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS764816701 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS764816792 NTRK1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Hereditary insensitivity to pain with anhidrosis
RS764816819 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS764817410 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS764817484 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764817683 PKP2 Health Risk Pathogenic Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS764819068 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS764819788 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS764819816 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS764819935 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS764821044 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS764821435 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS764822052 KCNA2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS764823412 TELO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764823441 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS764823722 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Legius syndrome
RS764823951 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS764824311 CDH23 Health Risk Pathogenic Retinal dystrophy, Usher syndrome type 1
RS764825249 RLBP1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS764825402 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS764826805 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS764827027 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS764827256 EPHB4 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS764827921 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS764828665 LARS2 Health Risk Likely pathogenic Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
RS764831063 DHDDS Health Risk Likely pathogenic Congenital disorder of glycosylation, type Ibb
RS764831534 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS764831888 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS76483206 DYNC2LI1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS764832388 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS764832849 TTN Health Risk Conflicting classifications of pathogenicity —
RS764832852 FANCD2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Fanconi anemia
RS764833435 GYS2 Health Risk Pathogenic/Likely pathogenic GYS2-related disorder, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS764833797 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS764833865 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hemolytic anemia, Autosomal dominant distal renal tubular acidosis
RS764834875 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS764835191 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS764836394 FRAS1 Health Risk Pathogenic —
RS764837003 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS764838044 ATP8A2 Health Risk Conflicting classifications of pathogenicity —
RS764838079 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS764838478 HOXD13 Health Risk Pathogenic Synpolydactyly type 1, Synpolydactyly type 1
RS764839142 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS764839814 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS764839969 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS764840082 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Ovarian cancer
RS764840802 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS764841108 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS764841248 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS764841269 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish type amyloidosis
RS764841861 STAG3 Health Risk Likely pathogenic Premature ovarian insufficiency, Female infertility
RS764842086 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS764842172 KRT14 Health Risk Pathogenic —
RS764842587 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS764842865 WFS1 Health Risk Likely risk allele Wolfram syndrome 1, Wolfram syndrome 1
RS764843145 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS764843382 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS764845483 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS764846703 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS764847274 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
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