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
RS745641212 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS745642001 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS745642201 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS745642834 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS745643453 AASS Health Risk Pathogenic/Likely pathogenic Hyperlysinemia, Hyperlysinemia
RS745643715 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS745644146 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS745644667 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS745645307 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS745645356 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS745645385 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS745645715 KCNE3 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 6, Cardiovascular phenotype
RS745645801 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS745646057 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast and colorectal cancer
RS745646456 TLR3 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS745646607 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1
RS745647728 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS745647844 PCDH15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745648160 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS745649295 OTOA Health Risk Pathogenic —
RS745650222 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS745650955 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS745651556 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS745652559 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS745652723 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS745654673 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal disorder
RS745655037 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS745655301 SPEN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745655794 UGT1A1 Health Risk Pathogenic —
RS745655908 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS745655924 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS745656120 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS745656125 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS745657036 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS745657866 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS745658597 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS745658927 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS745659621 RAD51 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745659712 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, RECON progeroid syndrome
RS745659756 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS745659837 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS745659988 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS7-related disorder
RS745661722 SBDS Health Risk Pathogenic Shwachman-Diamond syndrome 1, Aplastic anemia
RS745663149 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease axonal type 2K
RS745664191 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS745664606 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS745664974 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS745665056 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS745665658 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS745665963 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS745666437 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS745666586 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS745667305 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS745667706 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS745668474 CDH23 Health Risk Pathogenic —
RS745668942 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS745669155 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS745669231 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS745669233 ANKH Health Risk Conflicting classifications of pathogenicity Craniometaphyseal dysplasia, autosomal dominant
RS745669537 COQ8B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745670004 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS745670628 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS745670666 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745671153 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Inborn genetic diseases
RS745671590 NTHL1 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS745672593 FYB1 Health Risk Pathogenic Thrombocytopenia 3, Thrombocytopenia 3
RS745672741 SMAD3 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS745672795 COL4A4 Health Risk Likely pathogenic Hematuria, benign familial
RS745672876 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS745673370 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, ATM-related disorder
RS745674960 PIEZO1 Health Risk Likely pathogenic PIEZO1-related disorder, PIEZO1-related disorder
RS745677541 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS745677716 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS745677721 MMP2 Health Risk Likely pathogenic Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS745678508 CUL7 Health Risk Conflicting classifications of pathogenicity —
RS745679643 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS745679666 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS745681787 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS745682499 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 1
RS745683775 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Nonsyndromic genetic hearing loss
RS745684193 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS745684683 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases
RS745685399 HESX1 Health Risk Pathogenic/Likely pathogenic Septo-optic dysplasia sequence, Septo-optic dysplasia sequence
RS745687916 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS745688122 TCTN3 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 18, Orofacial-digital syndrome IV
RS745688425 ALPK3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS745688750 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS745688776 LRP6 Health Risk Pathogenic —
RS745691610 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, 7 conditions
RS745692004 DPM3 Health Risk Pathogenic/Likely pathogenic DPM3-congenital disorder of glycosylation, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development)
RS745692178 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS745692619 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS745692702 KIF21A Health Risk Conflicting classifications of pathogenicity Congenital fibrosis of extraocular muscles type 1, Inborn genetic diseases
RS745693501 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS745694128 PIEZO2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis
RS745695673 CIC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 45
RS745695719 VPS50 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS745696590 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS745697037 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, FAT4-related disorder
RS745697064 RGS9 Health Risk Likely pathogenic —
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