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
RS150650712 TOPORS Health Risk Conflicting classifications of pathogenicity TOPORS-related disorder, TOPORS-related disorder
RS150651692 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS150651989 B3GAT3 Health Risk Conflicting classifications of pathogenicity Larsen-like syndrome, B3GAT3 type
RS150652745 MIB1 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 7, Inborn genetic diseases
RS150653226 ITCH Health Risk Conflicting classifications of pathogenicity Syndromic multisystem autoimmune disease due to ITCH deficiency, Inborn genetic diseases
RS150654176 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Gallbladder disease 4
RS150654627 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS150655393 ODAD2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 23, Primary ciliary dyskinesia
RS150656271 MGME1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 11, Mitochondrial DNA depletion syndrome 11
RS150656720 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS150656878 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS150657573 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS150657839 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS150660496 GUF1 Health Risk Conflicting classifications of pathogenicity —
RS150661792 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS150661838 C2CD3 Health Risk Conflicting classifications of pathogenicity —
RS150661999 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS150662353 GLYCTK Health Risk Conflicting classifications of pathogenicity D-Glyceric aciduria, GLYCTK-related disorder
RS150665171 CTSA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Combined deficiency of sialidase AND beta galactosidase
RS150665982 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS150666616 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS150667217 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS150667239 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS150667550 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, Inborn genetic diseases
RS150667796 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS150668075 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS150668398 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS150669855 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS150670521 COL1A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Osteogenesis imperfecta
RS150671482 TUBGCP5 Health Risk Conflicting classifications of pathogenicity —
RS150671525 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS150671729 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS150672767 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, PTPRC-related disorder
RS150672907 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS150672943 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 10
RS150675340 HEXA Health Risk Pathogenic Tay-Sachs disease, HEXA-related disorder
RS150676638 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, DSG4-related disorder
RS150677758 NLRP7 Health Risk Conflicting classifications of pathogenicity Hydatidiform mole, recurrent
RS150677837 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS150678035 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS150678882 KCNMA1 Health Risk Pathogenic/Likely pathogenic KCNMA1-related disorder, Liang-Wang syndrome
RS150678946 DGUOK Health Risk Pathogenic/Likely pathogenic DGUOK-related disorder, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS150679968 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1L1-related disorder
RS150680111 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS150681002 SERPINI1 Health Risk Conflicting classifications of pathogenicity Familial encephalopathy with neuroserpin inclusion bodies, Inborn genetic diseases
RS150681316 CEP135 Health Risk Conflicting classifications of pathogenicity CEP135-related disorder, CEP135-related disorder
RS150681693 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS150681845 INTU Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Growth delay
RS150682314 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS150682688 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS150682850 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS150682922 GALNT3 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS150683226 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS150683293 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS150683925 LIPT1 Health Risk Conflicting classifications of pathogenicity LIPT1-related disorder, Inborn genetic diseases
RS150684410 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS150684838 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiomyopathy
RS150686112 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS150686179 ABCA4 Health Risk Pathogenic —
RS150686304 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS150686327 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS150686813 TGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150687987 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS150688144 DHCR24 Health Risk Conflicting classifications of pathogenicity Desmosterolosis, Inborn genetic diseases
RS150688188 ITGB4 Health Risk Conflicting classifications of pathogenicity —
RS150689014 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS150689121 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Nance-Horan syndrome
RS150689413 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS150690061 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS150690195 ELN Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 1
RS150691000 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS150691722 EVC2 Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS150692463 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS150692967 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS150693502 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150694150 COL6A3 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS150694809 CFH Health Risk Pathogenic Age related macular degeneration 4, Basal laminar drusen
RS150695313 CFAP44 Health Risk Conflicting classifications of pathogenicity CFAP44-related disorder, Inborn genetic diseases
RS150695565 FGF10 Health Risk Conflicting classifications of pathogenicity Congenital absence of salivary gland, Lacrimoauriculodentodigital syndrome 3
RS150696398 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS150697472 CYP21A2;TNXB Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS150698607 DUOX2 Health Risk Conflicting classifications of pathogenicity —
RS150699964 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150700669 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS150700978 ROBO4 Health Risk Conflicting classifications of pathogenicity Ascending tubular aorta aneurysm, Bicuspid aortic valve
RS150701487 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS150702232 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS150702500 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS150702945 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS150705692 NALCN Health Risk Conflicting classifications of pathogenicity —
RS150705788 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS150705915 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS150706241 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, DSG4-related disorder
RS150706976 RMND1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 11, Inborn genetic diseases
RS150707631 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS150708636 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS150708651 VCAN Health Risk Conflicting classifications of pathogenicity VCAN-related disorder, Inborn genetic diseases
RS150709673 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), DNAJB6-related disorder
RS150710001 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
RS150710034 CRLF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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