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
RS562705407 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS562708339 MYH3 Health Risk Pathogenic —
RS562712652 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS562715858 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS56271605 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS562717417 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS56272539 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS562726925 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder
RS56272862 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS56273463 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Early-onset myopathy with fatal cardiomyopathy
RS562735582 TECTA Health Risk Conflicting classifications of pathogenicity —
RS562736621 KLHL3 Health Risk Pathogenic Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D
RS562740927 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS56275071 GLUD1 Health Risk Pathogenic Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS562766169 PRMT7 Health Risk Conflicting classifications of pathogenicity PRMT7-related disorder, PRMT7-related disorder
RS562767308 ZNF462 Health Risk Pathogenic —
RS562768588 XPA Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Ovarian serous cystadenocarcinoma
RS562815854 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS562829310 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Leukoencephalopathy
RS562829514 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS562833714 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS562833882 CNTNAP2 Health Risk Likely pathogenic —
RS562835629 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS56283738 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS562843836 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Craniosynostosis syndrome
RS562847013 POLG Health Risk Conflicting classifications of pathogenicity Primary progressive multiple sclerosis, Mitochondrial DNA depletion syndrome
RS562848214 NDUFAF7 Health Risk Conflicting classifications of pathogenicity —
RS562853291 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS56285559 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS562861748 AFG3L2 Health Risk Conflicting classifications of pathogenicity Spastic ataxia 5, Optic atrophy 12
RS56287471 IL12B Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, IL12B-related disorder
RS562875924 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS562877308 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS562882648 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS562883044 KPNA7 Health Risk Conflicting classifications of pathogenicity —
RS562885611 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS562890289 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
RS562893642 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS56289428 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS562898957 COL6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS56290308 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, TRPM6-related disorder
RS562913612 AP4E1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS562915665 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS56291926 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS562925562 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
RS562932233 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS562933313 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS562934299 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS562942379 GUCY2C Health Risk Conflicting classifications of pathogenicity Congenital diarrhea 6, Meconium ileus
RS562946055 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS562956970 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS562972090 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS562978382 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS562984167 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Inborn genetic diseases
RS562997544 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS562998574 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS56299915 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS563000405 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS563016888 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS563017227 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS56301903 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS56302117 FASLG Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS563023244 CCBE1 Health Risk Pathogenic Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS563025075 NUP214 Health Risk Likely pathogenic Encephalopathy, acute
RS56302559 MAP3K14 Health Risk Conflicting classifications of pathogenicity NIK deficiency, NIK deficiency
RS56302651 ROR2 Health Risk Likely pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS563033008 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS563033366 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS56303650 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder
RS563040643 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
RS563042010 TECRL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS563043611 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder
RS563046954 DNA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS563050274 TRAPPC9 Health Risk Conflicting classifications of pathogenicity —
RS563053401 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS563054392 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS563062273 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS563069739 IGFBP4 Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS563073635 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS56307536 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS56307810 PCDH19 Health Risk Pathogenic —
RS563079629 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS56308529 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS563086463 IFT43 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81
RS563086985 PNP Health Risk Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS563089155 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS563090568 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS563094714 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS563097395 LTBP2 Health Risk Conflicting classifications of pathogenicity LTBP2-related disorder, LTBP2-related disorder
RS563099936 BPGM Health Risk Conflicting classifications of pathogenicity Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase
RS563110484 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, SCN10A-related disorder
RS56311081 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS563115409 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS563116446 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS56311811 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS56312115 IRAK4 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 67, Immunodeficiency 67
RS563126698 KAT6A Health Risk Pathogenic —
RS563126725 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS56313008 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, DDR2-related disorder
RS563130304 MILR1;POLG2 Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
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