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
RS574482100 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS57448541 KRT6A Health Risk Pathogenic —
RS574487898 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS574490008 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS5744933 POLE Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS5744943 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS5744947 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS5744954 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS5745021 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS5745066 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS5745067 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS574507277 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS574514175 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS574531814 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS574538366 DNAH9 Health Risk Pathogenic —
RS574542737 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS574550673 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS574552037 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS574552282 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Usher syndrome type 2
RS574553791 FAM111A Health Risk Conflicting classifications of pathogenicity —
RS574569326 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS574571465 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS574581011 LIM2 Health Risk Conflicting classifications of pathogenicity Cataract 19 multiple types, Inborn genetic diseases
RS574585676 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS574586008 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS574590559 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pontocerebellar hypoplasia type 3
RS574599168 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS574610215 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS574622908 KMT2D Health Risk Pathogenic Inborn genetic diseases, Kabuki syndrome 1
RS574631014 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS574635615 ALDOB Health Risk Pathogenic Hereditary fructosuria, ALDOB-related disorder
RS574635809 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS574637009 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS574641672 CRX Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS574641900 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS574644297 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS574647552 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS574653669 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS574654968 SNX27 Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS574656084 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS574656941 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS574657385 ZBTB24 Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Inborn genetic diseases
RS574660186 TTN Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, 6 conditions
RS574665425 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS574669908 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve
RS574670052 COL17A1 Health Risk Likely pathogenic —
RS574670461 PNPT1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 13, Autosomal recessive nonsyndromic hearing loss 70
RS574673404 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS574674874 ABCA7 Health Risk Conflicting classifications of pathogenicity —
RS574676553 PDE6B Health Risk Pathogenic —
RS574683248 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS574683904 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Ehlers-Danlos syndrome
RS574684578 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS574696410 RGS9 Health Risk Conflicting classifications of pathogenicity —
RS574700297 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS574703637 TBL1XR1 Health Risk Conflicting classifications of pathogenicity Pierpont syndrome, Pierpont syndrome
RS574711878 TTN Health Risk Conflicting classifications of pathogenicity —
RS574718771 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS574722652 ABCG8 Health Risk Conflicting classifications of pathogenicity —
RS574725520 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS574740041 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Hereditary pancreatitis
RS574740801 SPTAN1 Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, Developmental and epileptic encephalopathy
RS574746662 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS574764116 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS574768683 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 6 conditions
RS574777883 DIABLO Health Risk Conflicting classifications of pathogenicity —
RS574779350 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS574785830 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS574787451 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS574788908 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Familial hemiplegic migraine
RS574791609 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS574794395 NSD2 Health Risk Pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS574809183 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS574811308 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 1, von Willebrand disease type 3
RS574823234 TSC1 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Hereditary cancer-predisposing syndrome
RS574826021 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS574836628 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS574837250 GPATCH11 Health Risk Pathogenic Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia, Early onset and severe retinal dystrophy with neurological impairment and facial dysmorphia
RS574844562 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS574852095 MTCL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS574853557 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS574857016 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS574858597 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Neuroblastoma
RS574858955 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS574859747 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Neuroblastoma
RS574861276 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS574862389 ACTC1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 11
RS574863380 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS574878636 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS574880967 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS574898096 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS574898272 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS5749 TBXA2R Health Risk Conflicting classifications of pathogenicity —
RS574912936 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, DNA ligase IV deficiency
RS574917232 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, MYO7A-related disorder
RS574920135 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS574924064 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS574924879 SLC19A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS574925287 NR1H4 Health Risk Conflicting classifications of pathogenicity —
RS574936510 NR2E3 Health Risk Pathogenic Leber congenital amaurosis, Retinal dystrophy
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