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
RS778533848 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS778534889 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS778535261 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS778537772 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS778537779 TOM1 Health Risk Pathogenic Immunodeficiency 85 and autoimmunity, Immunodeficiency 85 and autoimmunity
RS778538491 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2
RS778539276 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS778539477 LAMA2 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS778540224 DLL1 Health Risk Pathogenic —
RS778542070 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, DOCK2 deficiency
RS778543124 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS778543585 BBS2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 74, Bardet-Biedl syndrome
RS778543586 PPP2R1A Health Risk Conflicting classifications of pathogenicity —
RS778543794 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS778544563 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS778544623 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS778544732 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS778545248 FLG Health Risk Pathogenic —
RS778546226 FANCF Health Risk Pathogenic Fanconi anemia complementation group F, Fanconi anemia complementation group F
RS778547659 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A
RS778548382 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS778548877 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS778549403 PPP1R21 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, facial dysmorphism
RS778549407 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS778550409 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS778551098 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS778551911 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS778553127 IMPG1 Health Risk Pathogenic —
RS778554304 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS778555849 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS778555956 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS778556211 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS778556895 POLR1C Health Risk Conflicting classifications of pathogenicity POLR1C-related disorder, POLR1C-related disorder
RS778558550 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS778560255 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS778560568 LTBP2 Health Risk Likely pathogenic —
RS778561823 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS778561883 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMB2-related infantile-onset nephrotic syndrome
RS778562344 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS778562391 LPIN1 Health Risk Pathogenic Myoglobinuria, acute recurrent
RS778562859 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-related disorder
RS778562892 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778563154 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS778563277 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS778565403 PDZD7 Health Risk Likely pathogenic Hearing loss, autosomal recessive 57
RS778565563 KLHL40 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 8, Nemaline myopathy 8
RS778565823 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS778566871 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS778567956 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS778567973 TOMM7 Health Risk Pathogenic Garg-Mishra progeroid syndrome, Garg-Mishra progeroid syndrome
RS778568339 TCAP Health Risk Pathogenic Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
RS778568641 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS778568717 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS778569928 PRG4 Health Risk Pathogenic —
RS778570054 MTHFD1 Health Risk Likely pathogenic —
RS778571042 RDH12 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS778571941 FGA Health Risk Likely pathogenic See cases, See cases
RS778572911 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778572930 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS778572943 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS778573140 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS778573156 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS778573169 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS778573303 PIK3CA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cowden syndrome
RS778573607 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS778573781 TELO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS77857406 ERMARD Health Risk Conflicting classifications of pathogenicity —
RS778574672 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS778574912 MYPN Health Risk Conflicting classifications of pathogenicity See cases, Dilated cardiomyopathy 1KK
RS778575439 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Leber plus disease, Mitochondrial complex I deficiency
RS778577109 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778577329 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS778577575 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS778578954 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS778580507 DMXL2 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 71
RS778580742 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS778580823 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS778581370 NPHP3 Health Risk Conflicting classifications of pathogenicity —
RS778582853 SDHC Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS778583017 MCM7 Health Risk Pathogenic Meier-Gorlin syndrome, Meier-Gorlin syndrome
RS778585043 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS778585416 LHCGR Health Risk Conflicting classifications of pathogenicity Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
RS778585590 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS778586293 COQ2 Health Risk Conflicting classifications of pathogenicity COQ2-related disorder, COQ2-related disorder
RS778586545 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS778587763 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS778587887 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS778587914 NBEAL2 Health Risk Likely pathogenic —
RS778587934 CLCN1 Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS778590372 CELSR3 Health Risk Likely pathogenic See cases, See cases
RS778590407 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778590896 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS778591472 NECTIN1 Health Risk Likely pathogenic Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS778591641 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS778592523 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS778593702 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS778594104 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, ENG-related disorder
RS778594253 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, DYNC2H1-related disorder
RS778594889 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS778596308 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
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