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
RS753699011 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder due to PEX1 defect, Peroxisome biogenesis disorder 1B
RS753700157 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS753700179 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS753701495 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS753701569 ADGRV1 Health Risk Pathogenic —
RS753701755 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS753702133 MED13L Health Risk Conflicting classifications of pathogenicity Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries
RS753703762 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS753703868 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS753705135 COL7A1 Health Risk Likely pathogenic —
RS753705888 RBM28 Health Risk Likely pathogenic ANE syndrome, ANE syndrome
RS753706965 PCK2;NRL Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
RS753707154 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS753707182 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS753707206 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS753707755 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753708048 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 5A
RS753709131 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Breast-ovarian cancer
RS753709490 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS753709519 SLC19A1;COL18A1 Health Risk Likely pathogenic —
RS753711137 PSMB10 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5
RS753711190 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Amelogenesis imperfecta type 1A
RS753711253 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency
RS753711667 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS753712072 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS753712951 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS753712960 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS753713015 NUS1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type IAA
RS753713629 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS753713810 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS753714506 CTNNA1 Health Risk Pathogenic —
RS753714824 LSS Health Risk Pathogenic —
RS753716627 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS753718572 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS753719501 TUBA1A Health Risk Conflicting classifications of pathogenicity Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS753719949 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS753720421 MDFIC Health Risk Pathogenic Lymphatic malformation 12, Lymphatic malformation 12
RS753720576 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS753721331 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer
RS753721437 OCA2 Health Risk Likely pathogenic Oculocutaneous albinism, Oculocutaneous albinism
RS753723223 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS753723230 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753723351 SLC2A10 Health Risk Likely pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS753723769 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS753724503 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS753725579 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS753726014 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS753727461 FANCG Health Risk Pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS753728435 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS753729414 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS753729438 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS753730009 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS753730553 ARMC9 Health Risk Likely pathogenic —
RS753731408 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS753731849 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS753732275 SLC24A5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS753732321 CLN5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS753732362 RAB27A Health Risk Conflicting classifications of pathogenicity Griscelli syndrome type 2, Autoinflammatory syndrome
RS753732596 DARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS753733095 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS753733164 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS753733901 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS753734433 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS753734546 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS753734834 ASH1L Health Risk Pathogenic Intellectual disability, autosomal dominant 52
RS753735306 KIR3DL3 Health Risk Conflicting classifications of pathogenicity —
RS753737612 SIM1 Health Risk Conflicting classifications of pathogenicity Obesity due to SIM1 deficiency, SIM1-related disorder
RS753739238 SON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753739358 LHFPL5 Health Risk Pathogenic/Likely pathogenic Deafness, Deafness
RS753739746 MSR1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS753740913 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS753741123 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753742613 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS753743263 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS753743625 HERC2 Health Risk Conflicting classifications of pathogenicity Developmental delay with autism spectrum disorder and gait instability, Inborn genetic diseases
RS753744335 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Regional enteritis
RS753745170 SLC1A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753746099 FREM2 Health Risk Pathogenic/Likely pathogenic Isolated cryptophthalmia, Fraser syndrome 2
RS753746307 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS753747037 EGR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS753747243 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS753747821 IMPG2 Health Risk Pathogenic Retinitis pigmentosa 56, Retinal dystrophy
RS753748759 WNT9B Health Risk Likely pathogenic Cystic renal dysplasia, Chronic kidney disease
RS753749502 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS753749828 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753750358 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS753751183 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS753751194 SYN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy
RS753751373 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS753752321 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS753753954 FBN2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly
RS753754773 CD36 Health Risk Pathogenic/Likely pathogenic CD36-related disorder, Platelet-type bleeding disorder 10
RS753756119 PRMT7 Health Risk Conflicting classifications of pathogenicity Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS753756949 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS753757610 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS753757778 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS753758073 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS753758429 ACADS Health Risk Likely pathogenic —
RS753758872 PNPLA8 Health Risk Pathogenic Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
RS753759302 CLCN7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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