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
RS532400782 MOCS1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS532405862 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 9
RS532420248 CAPN15 Health Risk Conflicting classifications of pathogenicity Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome
RS532433812 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS532436 ABO Health Risk association ABO blood group system, ABO blood group system
RS532438706 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS532444891 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS532455995 SLC25A21 Health Risk Conflicting classifications of pathogenicity —
RS532458270 COQ8A Health Risk Likely pathogenic —
RS532458283 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS532459336 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
RS532463685 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS532463691 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS532465195 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS532480170 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS532489785 APOA1 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Familial visceral amyloidosis
RS532495528 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS532498780 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 4
RS532499456 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS532500975 RTN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS532519039 ASXL3 Health Risk Conflicting classifications of pathogenicity Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Inborn genetic diseases
RS532521303 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS532522222 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS532525154 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group G, Fanconi anemia
RS532526634 SPTB Health Risk Pathogenic —
RS532531549 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS532550120 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS532551057 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS532565367 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS532585602 MSH6 Health Risk Conflicting classifications of pathogenicity Endometrial carcinoma, Mismatch repair cancer syndrome 3
RS532587037 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS532589236 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS532592274 HOXD10 Health Risk Conflicting classifications of pathogenicity Congenital vertical talus, Congenital vertical talus
RS532620254 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS532620482 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS532621952 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Inborn genetic diseases
RS532631248 SCN9A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS532631461 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS532636981 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS532643979 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS532645343 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W
RS532656197 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS532659627 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS532668125 RAF1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 5, LEOPARD syndrome 2
RS532672867 IARS2 Health Risk Likely pathogenic —
RS532700241 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS532706350 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS532711949 PHOX2B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Haddad syndrome
RS532713234 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS532714783 NGF Health Risk Conflicting classifications of pathogenicity Congenital sensory neuropathy with selective loss of small myelinated fibers, Congenital sensory neuropathy with selective loss of small myelinated fibers
RS532720319 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS532723373 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS532725261 LARS2 Health Risk Conflicting classifications of pathogenicity —
RS532731688 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, IDUA-related disorder
RS532733393 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS532738580 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532746761 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532748737 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532749039 IFNGR1 Health Risk Pathogenic Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection
RS532757890 ECEL1 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS532763032 TALDO1 Health Risk Conflicting classifications of pathogenicity Deficiency of transaldolase, Deficiency of transaldolase
RS532767918 IHH Health Risk Conflicting classifications of pathogenicity Brachydactyly type A1, Brachydactyly type A1
RS532774213 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS532776939 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS532781183 POLE Health Risk Pathogenic —
RS532786413 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS532793633 P2RX2 Health Risk Conflicting classifications of pathogenicity —
RS532797776 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, EYS-related disorder
RS532800656 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS532803527 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS532806732 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS532808222 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS532810255 RET Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Hirschsprung disease
RS532811225 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS532818379 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS532827189 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS532831292 SRP54 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532833599 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS532833627 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS532834782 GCM2 Health Risk Likely pathogenic GCM2-related disorder, Hyperparathyroidism 4
RS532836800 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532836837 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS532839486 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS532842455 ALOX12B Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS532843679 MFSD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuronal ceroid lipofuscinosis 7
RS532844402 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS532857190 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS532862288 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS532870929 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-related disorder
RS532871047 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS532873141 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS532875477 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS532878175 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532880924 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS532881368 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS532903617 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS532919927 DNAI1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS532921066 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS532940784 VPS33B Health Risk Likely pathogenic Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
RS532941548 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Short QT syndrome type 2
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