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
RS147208782 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS147209201 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS147209278 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS147210317 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS147210405 BCKDK Health Risk Pathogenic Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
RS147210608 TTN Health Risk Conflicting classifications of pathogenicity —
RS147210663 APOC3 Health Risk Conflicting classifications of pathogenicity Coronary heart disease, Apolipoprotein c-III deficiency
RS147210845 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1472109408 SLC17A5 Health Risk Pathogenic/Likely pathogenic Salla disease, Sialic acid storage disease
RS147211854 BRWD1 Health Risk Likely pathogenic Recurrent otitis media, Recurrent sinusitis
RS1472119885 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS147212285 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS1472123387 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS147213053 DHCR24 Health Risk Conflicting classifications of pathogenicity Desmosterolosis, DHCR24-related disorder
RS147213897 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary infantile
RS1472146831 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS147214773 CXCR4 Health Risk Conflicting classifications of pathogenicity Warts, hypogammaglobulinemia
RS147215386 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1472156150 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS147215925 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS147216026 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, FYCO1-related disorder
RS1472169963 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Thrombophilia
RS147216997 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, Inborn genetic diseases
RS147218173 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Autosomal recessive congenital ichthyosis 4A
RS1472189003 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS1472190012 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS147219129 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147219158 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Hypertrophic cardiomyopathy
RS147219360 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1472194405 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS147219463 CPOX Health Risk Conflicting classifications of pathogenicity Hereditary coproporphyria, Hereditary coproporphyria
RS147219591 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1472199114 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 56
RS147220022 SAMHD1 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS147220162 COL13A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL13A1-related disorder
RS147220426 VANGL1 Health Risk Conflicting classifications of pathogenicity Neural tube defect, Sacral defect with anterior meningocele
RS1472205853 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS147220685 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1472207337 APC2 Health Risk Pathogenic Cortical dysplasia, complex
RS1472207768 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS147220828 NMNAT1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 9, Spondyloepiphyseal dysplasia
RS147221131 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, LYST-related disorder
RS1472215562 OCLN Health Risk Likely pathogenic —
RS147222255 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Caroli disease
RS147222357 ITGB4 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS1472227590 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS147222776 CRYBA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cataract 23
RS147223101 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1472234526 KCND2 Health Risk Pathogenic Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS147223483 COX4I2 Health Risk Conflicting classifications of pathogenicity Pancreatic insufficiency-anemia-hyperostosis syndrome, Pancreatic insufficiency-anemia-hyperostosis syndrome
RS147223574 ZNF148 Health Risk Conflicting classifications of pathogenicity Global developmental delay, absent or hypoplastic corpus callosum
RS147223742 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS1472239682 ADGRV1 Health Risk Likely pathogenic Febrile seizures, familial
RS147224585 ERCC2 Health Risk Conflicting classifications of pathogenicity —
RS147226112 VMA22 Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS147226818 SLC10A1 Health Risk Conflicting classifications of pathogenicity Hypercholanemia, familial
RS147226856 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1472268761 TRAF3IP1 Health Risk Pathogenic —
RS147226975 SI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1472278114 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS147227819 PARS2 Health Risk Conflicting classifications of pathogenicity PARS2-related disorder, Developmental and epileptic encephalopathy
RS147229452 PIGV Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1
RS1472299295 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1472300213 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1472307602 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1472308773 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS147231219 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS147231661 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS147231796 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, GPC3-related disorder
RS1472318634 ERCC6L2 Health Risk Pathogenic —
RS147231991 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 8
RS147232364 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1472324247 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS147233112 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, ASAH1-related disorders
RS147233841 CRYM Health Risk Conflicting classifications of pathogenicity —
RS1472348578 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS147234859 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS147235167 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS147235302 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS147235743 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS147236129 CD79B Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 6, autosomal recessive
RS1472363309 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS147236883 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS147237457 COL9A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome, type 4
RS1472376292 PLK4 Health Risk Pathogenic —
RS147238010 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, ITGB2-related disorder
RS1472397242 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1472403020 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS147240777 SAMHD1 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS1472414854 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS147241704 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS147241767 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS147241955 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS147242124 ERCC6;PGBD3 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS147242147 PNPLA8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147242476 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 4
RS147242592 APOC2 Health Risk Conflicting classifications of pathogenicity Familial apolipoprotein C-II deficiency, Familial apolipoprotein C-II deficiency
RS147242797 OPA1 Health Risk Conflicting classifications of pathogenicity OPA1-related disorder, OPA1-related disorder
RS1472437659 UPF3B Health Risk Likely pathogenic —
RS147244033 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
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