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
RS746827841 HPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746828415 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746829047 MPDZ Health Risk Pathogenic —
RS746829106 EYS Health Risk Pathogenic —
RS746829414 LAMA5 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, Inborn genetic diseases
RS746829669 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS746830415 TJP2 Health Risk Pathogenic TJP2-related disorder, TJP2-related disorder
RS746831347 TMEM127 Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Hereditary pheochromocytoma and paraganglioma
RS746831560 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746832628 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS746833089 GRM7 Health Risk Pathogenic Neurodevelopmental disorder with seizures, hypotonia
RS746833511 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Primary dilated cardiomyopathy
RS746834149 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS746834335 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS746834464 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS746835381 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial complex I deficiency
RS746835434 LARP7 Health Risk Pathogenic —
RS746836038 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS746836333 ABCA3 Health Risk Likely pathogenic —
RS746837034 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, USH2A-related disorder
RS746837045 KDM5B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 65
RS746837108 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS746837986 AXIN2 Health Risk Pathogenic/Likely pathogenic Oligodontia-cancer predisposition syndrome, Colorectal cancer
RS746838237 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS746838793 EARS2 Health Risk Likely pathogenic —
RS746839544 COQ6 Health Risk Pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS746840086 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746841307 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS746841401 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS746842267 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS746842727 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS746842822 CYP11B2 Health Risk Likely pathogenic Corticosterone methyloxidase type 2 deficiency, Corticosterone 18-monooxygenase deficiency
RS746844529 HPS5 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS746844753 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS746846045 DMP1 Health Risk Likely pathogenic —
RS746846673 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS746847103 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS746847960 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS746848153 CACNA1A Health Risk Likely pathogenic —
RS746848165 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS746848315 CHST3 Health Risk Pathogenic/Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS746849558 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS746849639 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746849675 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis 3
RS746849797 ODAD3 Health Risk Likely pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS746850084 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS746850653 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS746850663 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-related disorder
RS746850858 MYPN Health Risk Likely pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS746850899 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS746852311 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS746853821 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, AR-related disorder
RS746853951 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS746854470 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS746854614 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS746854983 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS746855352 GOSR2 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Muscular dystrophy
RS746855701 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS746856770 AIFM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency
RS746857727 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS746859902 ADAT3 Health Risk Pathogenic Intellectual disability-strabismus syndrome, Intellectual disability-strabismus syndrome
RS746860249 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS746860401 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS746861070 PIGB Health Risk Pathogenic —
RS746861398 CEP78 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746862066 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS746862161 SLC13A3 Health Risk Likely pathogenic Leukoencephalopathy, acute reversible
RS746862304 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS746863482 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS746863848 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS746864661 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS746865307 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS746867546 MYO18B Health Risk Pathogenic —
RS746867724 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Rod-cone dystrophy
RS746868162 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS746869680 LAMC3 Health Risk Pathogenic —
RS746870368 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS746870927 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS746870942 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS746871581 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS746871920 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS746872839 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS746873023 CCDC8 Health Risk Likely pathogenic 3M syndrome 3, 3M syndrome 3
RS746873768 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS746873807 TEAD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746874042 SKIC3 Health Risk Likely pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS746874909 MCM10 Health Risk Pathogenic Immunodeficiency 80 with or without congenital cardiomyopathy, Immunodeficiency 80 with or without congenital cardiomyopathy
RS746875019 OFD1 Health Risk Pathogenic —
RS746875134 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS746875668 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases
RS746876753 NAGLU Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS746877365 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS746877433 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS746877994 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS746878731 UNG Health Risk Likely pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS746878988 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS746879032 SAMD7 Health Risk Pathogenic Macular dystrophy with or without cone dysfunction, Macular dystrophy with or without cone dysfunction
RS746879923 CNNM4 Health Risk Pathogenic Jalili syndrome, Retinal dystrophy
RS746881295 MRPS22 Health Risk Pathogenic —
RS746882046 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
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