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
RS375928335 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS375930208 FTO Health Risk Conflicting classifications of pathogenicity Lethal polymalformative syndrome, Boissel type
RS375931088 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS375931384 NIN Health Risk Conflicting classifications of pathogenicity —
RS375931404 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS375931940 MYLK Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 7
RS375933774 CRYAB Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1II, Dilated cardiomyopathy 1II
RS375934176 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS375934353 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS375934693 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS375934938 LEPR Health Risk Conflicting classifications of pathogenicity Obesity due to leptin receptor gene deficiency, Inborn genetic diseases
RS375934957 COQ2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
RS375935118 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS375936342 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS375937289 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS375937729 COL11A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Inborn genetic diseases
RS375938059 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
RS375938097 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS375938553 SLCO2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375938610 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, ATR-related disorder
RS375940680 SCN10A Health Risk Conflicting classifications of pathogenicity Hereditary sodium channelopathy-related small fibers neuropathy, Brugada syndrome
RS375940741 CCDC88C Health Risk Pathogenic —
RS375941259 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS375941290 PAPPA2 Health Risk Pathogenic —
RS375942182 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS375943296 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS375944265 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS375945657 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Actin accumulation myopathy
RS375946418 TTN Health Risk Conflicting classifications of pathogenicity —
RS375947003 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS375947336 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, Inborn genetic diseases
RS375947967 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS375948367 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS375949362 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS375949615 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS375950722 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS375950739 ARHGEF1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 62, Immunodeficiency 62
RS375950989 SERPING1 Health Risk Conflicting classifications of pathogenicity —
RS375951814 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS375951862 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS375952052 CTNS Health Risk Pathogenic Nephropathic cystinosis, Infantile nephropathic cystinosis
RS375952649 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS375953112 MYO18B Health Risk Likely pathogenic —
RS375953746 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS375954913 WDR73 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Galloway-Mowat syndrome 1
RS375955867 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS375955950 SLC25A22 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS375956049 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS375956503 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375957868 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS375958273 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS375958814 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS375959009 MCM3AP Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, autosomal recessive
RS375960295 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS375960614 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS375961396 DRC1 Health Risk Pathogenic Spermatogenic failure 80, Spermatogenic failure 80
RS375961779 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS375961962 F13B Health Risk Conflicting classifications of pathogenicity Factor XIII, b subunit
RS375964205 MSX2 Health Risk Conflicting classifications of pathogenicity Parietal foramina 1, Craniosynostosis 2
RS375965591 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS375966384 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS375966817 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS375968016 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS375968367 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS375968699 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS375968742 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS375968860 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS375969725 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS375970910 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve
RS375971315 NAA10 Health Risk Conflicting classifications of pathogenicity NAA10-related disorder, NAA10-related disorder
RS375971925 LAMC3 Health Risk Conflicting classifications of pathogenicity —
RS375972461 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS375972545 STXBP1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 4
RS375973110 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS375973426 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375973884 USH1C Health Risk Conflicting classifications of pathogenicity —
RS375974046 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS375974979 RIN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RIN2-related disorder
RS375975334 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS375975652 CYP19A1 Health Risk Conflicting classifications of pathogenicity Aromatase deficiency, Premature ovarian failure
RS375976660 CYP24A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375978224 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS375978676 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS375978861 LAMA5 Health Risk Conflicting classifications of pathogenicity —
RS375979145 TTN Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Dilated cardiomyopathy 1G
RS375979698 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS375980154 COL4A1 Health Risk Conflicting classifications of pathogenicity Hemorrhage, intracerebral
RS375980443 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS375982567 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS375983969 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS375983999 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS375984855 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS375985056 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS375985254 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS375985550 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS375985673 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS375986111 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Cone-rod dystrophy 12
RS375986475 MT-TQ Health Risk Conflicting classifications of pathogenicity MELAS syndrome, MELAS syndrome
RS3759869 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS375987938 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
« Prev 1 ... 2755 2756 2757 2758 2759 2760 2761 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →