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
RS753820400 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS753823218 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger)
RS753823851 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Cutis laxa
RS753823903 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS753824369 COA8 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 17
RS753824435 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS753824908 COL18A1 Health Risk Pathogenic/Likely pathogenic Knobloch syndrome 1, Knobloch syndrome 1
RS753825335 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS753826693 CNTN1 Health Risk Likely pathogenic —
RS753827372 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS753828284 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A
RS753828779 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS753829097 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, ARG1-related disorder
RS753829320 MFF Health Risk Pathogenic Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
RS753829354 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753829743 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753829876 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS753831049 CFB Health Risk Conflicting classifications of pathogenicity Macular degeneration, Atypical hemolytic-uremic syndrome with B factor anomaly
RS753831132 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Spermatogenic failure 46
RS753831464 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS753831692 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Cryptophthalmos syndrome
RS753832760 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS753832779 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS753833996 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS753835568 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS753835841 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS753837544 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS753838459 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS753839004 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS753839301 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS753839890 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS753840283 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS753841103 SLC12A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753841404 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, Noonan syndrome
RS753843872 FAM20C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753843962 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS753844157 DISP1 Health Risk Conflicting classifications of pathogenicity DISP1-related disorder, DISP1-related disorder
RS753844400 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS753844954 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS753845247 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS753845990 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS753846865 HYCC1 Health Risk Conflicting classifications of pathogenicity Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS753847783 HNF1B Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, HNF1B-related disorder
RS753849540 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS753849847 RLBP1 Health Risk Pathogenic —
RS753850419 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS753850577 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS753850982 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS753851892 ENPP1 Health Risk Likely pathogenic Arterial calcification, generalized
RS753852308 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS753853134 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS753853386 ABHD5 Health Risk Conflicting classifications of pathogenicity Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS753853752 SEMA4A Health Risk Conflicting classifications of pathogenicity —
RS753854351 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS753854812 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS753855163 ADA Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS753855245 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS753855393 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS753856820 POMC Health Risk Pathogenic Obesity due to pro-opiomelanocortin deficiency, Obesity
RS753857000 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS753857146 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS753857234 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS753857355 GK Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS753857795 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS753858167 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753858988 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS753859207 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS753859240 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS753859556 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS753859758 CARD14 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Pityriasis rubra pilaris
RS753861836 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS753862052 RAD51D Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS753862254 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS753862598 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS753862749 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS753865441 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS753865718 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS753866114 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753866301 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Sarcotubular myopathy
RS753866423 OPHN1 Health Risk Conflicting classifications of pathogenicity —
RS753866885 CC2D1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 3
RS753867828 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL4A2-related disorder
RS753868549 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Blepharophimosis-impaired intellectual development syndrome
RS753869048 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS753870000 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS753870010 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS753870656 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS753871454 ASPA Health Risk Pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS753872402 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS753873681 NDUFAF6 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex I deficiency
RS753874439 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS753874848 PLA2G6 Health Risk Pathogenic/Likely pathogenic PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS753874898 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome
RS753874904 TTN Health Risk Conflicting classifications of pathogenicity —
RS753875871 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS753875974 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS753876000 DVL3 Health Risk Likely pathogenic 11 conditions, 11 conditions
RS753876598 CETP Health Risk Pathogenic —
RS753877293 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753878222 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
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