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
RS775904966 LAMC3 Health Risk Pathogenic —
RS775905979 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS775908245 CYP1B1 Health Risk Conflicting classifications of pathogenicity Congenital glaucoma, Irido-corneo-trabecular dysgenesis
RS775910704 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS775910970 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS775911275 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, SLC20A2-related disorder
RS775912185 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS775912205 LAMA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA2-related muscular dystrophy
RS775912475 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Benign cystic nephroma
RS775913576 TMEM138 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 16, Joubert syndrome 16
RS775914551 CPLANE1 Health Risk Pathogenic/Likely pathogenic CPLANE1-related disorder, Joubert syndrome and related disorders
RS775915220 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS775915301 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS775915490 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS775916984 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder
RS775917326 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS775918190 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS775918663 LRP2 Health Risk Pathogenic —
RS775919681 LMOD3 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Nemaline myopathy 10
RS775919783 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS775919951 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS775920504 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS775921052 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS775921966 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS775922302 USH2A Health Risk Conflicting classifications of pathogenicity —
RS775922507 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS775923229 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775923325 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Inborn genetic diseases
RS775923727 COL4A6 Health Risk Conflicting classifications of pathogenicity COL4A6-related disorder, COL4A6-related disorder
RS775924858 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS77592498 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C
RS775925434 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77592601 SERPINH1 Health Risk Pathogenic Preterm premature rupture of membranes, Preterm premature rupture of membranes
RS775926807 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS775927007 SLC24A1 Health Risk Pathogenic —
RS775927207 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Thrombophilia due to thrombin defect
RS775928044 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS775928689 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS775928735 BBS4 Health Risk Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4
RS77592987 CDH3 Health Risk Conflicting classifications of pathogenicity CDH3-related disorder, Inborn genetic diseases
RS775930259 MYSM1 Health Risk Pathogenic —
RS775931738 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS775931992 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Congenital portosystemic shunt
RS775932045 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS775932085 SLC25A24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775932206 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS775933206 SI Health Risk Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS775933506 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS775933907 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS775933965 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS775934717 HSD3B7 Health Risk Likely pathogenic HSD3B7-related disorder, Congenital bile acid synthesis defect 1
RS775934719 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS775935265 SYNE1 Health Risk Pathogenic Juvenile amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis
RS775935766 RPGRIP1 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS775936961 PHGDH Health Risk Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS775937459 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, Homocystinuria
RS775937664 IPO8 Health Risk Pathogenic VISS syndrome, IPO8 related Connective tissue disorder
RS775940832 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS775941240 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS775942010 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS775942126 MCPH1 Health Risk Conflicting classifications of pathogenicity —
RS775942718 PROSER2 Health Risk Conflicting classifications of pathogenicity —
RS775946081 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Heterotaxy
RS775946362 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS775946442 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia
RS775947264 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS775947267 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS775948550 HTRA2 Health Risk Conflicting classifications of pathogenicity Parkinson disease 13, autosomal dominant
RS775949142 DNMT3B Health Risk Pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS775949348 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS775950661 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS775951098 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775951517 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS775952114 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS775954427 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS775954885 KMT2D Health Risk Conflicting classifications of pathogenicity —
RS775955886 CACNA1I Health Risk Conflicting classifications of pathogenicity —
RS775956924 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS775957498 PROM1 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 12, Cone-rod dystrophy
RS775957625 TSPYL1 Health Risk Pathogenic/Likely pathogenic Sudden infant death-dysgenesis of the testes syndrome, Sudden infant death-dysgenesis of the testes syndrome
RS775958640 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS775960275 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775961598 PPM1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775961979 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1
RS775965001 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS775965325 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS775965879 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Papillary renal cell carcinoma type 1
RS775967055 C8A Health Risk Likely pathogenic Type I complement component 8 deficiency, Hepatocellular carcinoma
RS775969711 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS775970480 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS775971666 DYNC2H1 Health Risk Likely pathogenic —
RS775971872 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS775972214 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS775972475 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS775972605 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Idiopathic generalized epilepsy
RS775973095 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS775975116 SETBP1 Health Risk Conflicting classifications of pathogenicity Schinzel-Giedion syndrome, SETBP1-related disorder
RS775976285 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS775978677 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS775978755 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
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