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
RS369566535 AARS2 Health Risk Likely pathogenic —
RS369566552 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS369567469 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS369568420 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS369568820 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS369569464 KEL Health Risk Pathogenic KELL-NULL PHENOTYPE, KELL-NULL PHENOTYPE
RS369571582 TTC29 Health Risk Conflicting classifications of pathogenicity —
RS369572563 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS369573693 COQ8B Health Risk Pathogenic Nephrotic syndrome, type 9
RS369574115 TYMP Health Risk Conflicting classifications of pathogenicity —
RS369574719 GBE1 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease
RS369575243 GPD1 Health Risk Pathogenic Transient infantile hypertriglyceridemia and hepatosteatosis, Transient infantile hypertriglyceridemia and hepatosteatosis
RS369575989 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, COL4A3-related disorder
RS369576099 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS369576300 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS369577952 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2
RS369579749 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS369580755 PRDM5 Health Risk Pathogenic Ehlers-Danlos syndrome, Cardiovascular phenotype
RS369580836 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS369581570 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS369582237 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS369583084 EOGT Health Risk Pathogenic Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
RS369583279 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS369583316 PCDH15 Health Risk Likely pathogenic —
RS369583365 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS369583604 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS369583884 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS369584932 GEN1 Health Risk Conflicting classifications of pathogenicity —
RS369585190 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS369585356 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS369585835 BCOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Oculofaciocardiodental syndrome
RS369586175 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS369586235 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS369587906 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS369587937 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS369588002 TWNK Health Risk Conflicting classifications of pathogenicity Perrault syndrome 5, Perrault syndrome
RS369588299 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS369588398 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS369588942 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS369590240 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS369590382 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS369590424 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS369590506 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369591434 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS369591910 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS369594816 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369596004 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS369596190 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS369597903 SCP2 Health Risk Conflicting classifications of pathogenicity —
RS369598638 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Inborn genetic diseases
RS369600509 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS369600555 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS369600566 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS369601921 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
RS369602025 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis
RS369602540 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS369603431 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS369603655 TBX6 Health Risk Conflicting classifications of pathogenicity —
RS369603835 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS369605412 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS369606098 FGA Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Familial visceral amyloidosis
RS369606261 TECRL Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS369606279 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS369606728 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS369607332 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS369607686 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS369608621 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases
RS369608927 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS369609034 DOCK6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369609245 BMPR1B Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 3, Type A2 brachydactyly
RS369610397 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Central core myopathy
RS369610829 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS369610897 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS369612664 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS369613619 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS369614706 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS369615430 PAX2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 7, Focal segmental glomerulosclerosis 7
RS369615995 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS369616302 PLG Health Risk Conflicting classifications of pathogenicity Angioedema, hereditary
RS369619415 LSS Health Risk Pathogenic —
RS369619683 TRPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Trichorhinophalangeal syndrome
RS369620087 SLC26A1 Health Risk Conflicting classifications of pathogenicity Nephrolithiasis, calcium oxalate
RS369620088 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS369620344 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYH14-related disorder
RS369621159 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS369621601 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS369623392 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS369624032 DHCR24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369626030 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS369626133 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS369626489 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS369626505 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, PHARC syndrome
RS369626832 TNFRSF13C Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS369626956 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS369629290 CA5A Health Risk Conflicting classifications of pathogenicity Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases
RS369629444 AAAS Health Risk Likely pathogenic —
RS369629509 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS369629619 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS369630361 IL11RA Health Risk Likely pathogenic Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
RS369630836 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
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