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
RS766900840 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS766900945 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS766900991 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS766901049 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS766901538 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS766902987 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS766904735 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS766905791 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Gorlin syndrome
RS766905993 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS766906034 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS766906353 CDH23 Health Risk Likely pathogenic —
RS766907011 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766907687 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS766908402 NDUFS1 Health Risk Likely pathogenic —
RS766908700 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS766909163 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS76690956 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS766910280 SCN1B Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 1
RS766911756 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766913050 COMP Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS766913051 MRPS22 Health Risk Pathogenic —
RS766913143 MPDZ Health Risk Pathogenic —
RS766914147 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS766915154 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS766915366 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS766915522 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2, Retinitis pigmentosa 39
RS766916450 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS766917452 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS766917640 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS766919534 UMOD Health Risk Pathogenic Autosomal dominant medullary cystic kidney disease with or without hyperuricemia, Familial juvenile hyperuricemic nephropathy type 1
RS766920034 CD36 Health Risk Pathogenic/Likely pathogenic Malaria, susceptibility to
RS766920075 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS766920772 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS766921114 EIF2B5 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5
RS766921341 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS766922403 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, DNAH11-related disorder
RS766922669 POLE Health Risk Conflicting classifications of pathogenicity —
RS766925398 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS766925936 HYCC1 Health Risk Likely pathogenic Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
RS766926330 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS766926614 SYNPO Health Risk Conflicting classifications of pathogenicity —
RS766929091 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS766929334 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS766931184 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS766931727 ARID1B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental delay, Neurodevelopmental delay
RS766931948 NEMF Health Risk Pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
RS766932828 UBA5 Health Risk Pathogenic Inborn genetic diseases, UBA5-related disorder
RS766933370 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS766934517 TNNT1 Health Risk Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS766934707 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS766935145 TRMT5 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 26, Combined oxidative phosphorylation defect type 26
RS766935265 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS766935285 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS766935302 GBE1 Health Risk Pathogenic/Likely pathogenic GBE1-related disorder, Glycogen storage disease
RS766936914 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS766938111 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS766938558 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Melanoma
RS766938849 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS766939282 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS766941804 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766942126 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Menke-Hennekam syndrome 1
RS766942777 NRXN1 Health Risk Conflicting classifications of pathogenicity Chromosome 2p16.3 deletion syndrome, Pitt-Hopkins-like syndrome 2
RS766943204 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS766943894 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS766944483 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS766944646 CHD8 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS766945413 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
RS766945794 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS766945871 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS766945941 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS766946947 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS766947924 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Heimler syndrome 1
RS766948560 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Occult macular dystrophy
RS766949012 SUOX Health Risk Likely pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS766950362 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS766950664 KLHL7 Health Risk Likely pathogenic —
RS766950975 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS766951637 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS766952056 CEP290 Health Risk Likely pathogenic Nephronophthisis, Joubert syndrome
RS766953315 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS766956053 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARID1B-related disorder
RS766956834 TRAPPC2L Health Risk Likely pathogenic Encephalopathy, progressive
RS766956862 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS766957571 VPS13A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766958608 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS766958827 PLEKHG2 Health Risk Conflicting classifications of pathogenicity —
RS766959096 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS766959653 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766960979 CDK10 Health Risk Pathogenic/Likely pathogenic Al Kaissi syndrome, Inborn genetic diseases
RS766962106 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS766962315 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS766962416 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS766962462 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS766964098 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS766964585 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS766965358 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS766966542 SLC25A20 Health Risk Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency, SLC25A20-related disorder
RS766968609 MCM3AP Health Risk Pathogenic —
RS766968771 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS766969099 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
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