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
RS770383372 LRP5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS770383752 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS770385213 C8A Health Risk Likely pathogenic —
RS770386094 TTC8 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Bardet-Biedl syndrome
RS770386388 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS770386845 SNAP29 Health Risk Conflicting classifications of pathogenicity CEDNIK syndrome, CEDNIK syndrome
RS770387084 BMPR1A Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS770387107 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS770387211 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS770387277 PTS Health Risk Pathogenic/Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS770387587 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS770387752 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS770387882 RFXANK Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS770388931 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770388964 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS770389041 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS770389075 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Intellectual disability
RS770389147 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS770389350 SUOX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sulfite oxidase deficiency
RS770389488 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS770390524 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Retinal dystrophy
RS770390645 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS770391526 KANK4 Health Risk Conflicting classifications of pathogenicity —
RS770392096 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS770392960 ALG11 Health Risk Conflicting classifications of pathogenicity —
RS770393751 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS77039439 PAX4 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS770395590 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS770396146 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS770396757 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS770396940 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS770398676 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS770399051 AIMP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770399625 IMPG2 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 56
RS770399681 FLVCR2 Health Risk Conflicting classifications of pathogenicity —
RS770400253 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS770400317 SLC12A1 Health Risk Likely pathogenic Bartter disease type 1, Bartter syndrome
RS770402221 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS770403610 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 2
RS770403791 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS770403975 EYS Health Risk Pathogenic —
RS770405178 TRIM8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770406711 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS770407151 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS770408023 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS770408327 LEMD3 Health Risk Conflicting classifications of pathogenicity Dermatofibrosis lenticularis disseminata, Dermatofibrosis lenticularis disseminata
RS770408379 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS770408532 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS770408707 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS770408876 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS770408945 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS770411283 BRF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cerebellar-facial-dental syndrome
RS770411493 AEBP1 Health Risk Conflicting classifications of pathogenicity —
RS770411657 PTPN23 Health Risk Pathogenic/Likely pathogenic —
RS770412137 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, MAN2B1-related disorder
RS770412757 F12 Health Risk Conflicting classifications of pathogenicity Factor XII deficiency disease, Hereditary angioedema type 3
RS770414663 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS770414676 CDAN1 Health Risk Conflicting classifications of pathogenicity Anemia, congenital dyserythropoietic
RS770415804 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS770416478 SCN9A Health Risk Likely pathogenic —
RS770416858 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS770417659 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS770417825 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS770418172 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS770418305 NEK4 Health Risk Likely pathogenic Ciliopathy, Ciliopathy
RS770418403 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770419196 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS770422186 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS770424780 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS770424826 PAX3 Health Risk Conflicting classifications of pathogenicity —
RS770424951 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Visceral myopathy 2
RS770425261 CNOT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770425994 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS770426834 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS770427442 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS770427750 GBE1 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease
RS770427885 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), See cases
RS770428385 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770428835 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS770434848 MTOR Health Risk Conflicting classifications of pathogenicity —
RS770435124 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770436206 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS770436761 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS770437869 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS770438130 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease IIIa
RS770438363 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS770438816 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS770439843 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS770439859 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS770440198 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Duane-radial ray syndrome
RS770440975 LARS2 Health Risk Likely pathogenic Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4
RS770441610 IQCB1 Health Risk Pathogenic Nephronophthisis, Senior-Loken syndrome 5
RS770443276 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS770443947 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS770444026 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS770444240 TTBK2 Health Risk Likely pathogenic Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
RS770446305 DDC Health Risk Conflicting classifications of pathogenicity Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS770446713 PLOD3 Health Risk Pathogenic —
RS770446723 KATNIP Health Risk Likely pathogenic Joubert syndrome 26, Joubert syndrome 26
RS770446752 NBAS Health Risk Pathogenic Infantile liver failure syndrome 2, NBAS-related disorder
« Prev 1 ... 3527 3528 3529 3530 3531 3532 3533 ... 4509 Next »

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

Get Started Free →