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
RS199661483 CELSR1 Health Risk Conflicting classifications of pathogenicity —
RS199661793 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS199662534 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199662739 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS199663111 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FAT1-related disorder
RS199663175 GRM6 Health Risk Pathogenic —
RS199663613 TTN Health Risk Conflicting classifications of pathogenicity Left ventricular hypertrophy, Cardiovascular phenotype
RS199663911 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199664007 ANKH Health Risk Conflicting classifications of pathogenicity Chondrocalcinosis 2, Craniometaphyseal dysplasia
RS199664043 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Sarcotubular myopathy
RS199664417 EYA1 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 1, Otofaciocervical syndrome 1
RS199664723 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS199664795 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS199665345 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A
RS199665387 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS199665700 CD19 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS199665722 ALPL Health Risk Pathogenic/Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS199665785 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS199665873 KANK2 Health Risk Conflicting classifications of pathogenicity —
RS199665922 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Connective tissue disorder
RS199666119 DHODH Health Risk Conflicting classifications of pathogenicity Miller syndrome, DHODH-related disorder
RS199666126 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS199666386 GDF5 Health Risk Conflicting classifications of pathogenicity Multiple synostoses syndrome 2, Acromesomelic dysplasia 2B
RS199667439 DNAH9 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS199667629 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS199667661 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS199668104 MMUT Health Risk Pathogenic —
RS199668238 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS199668351 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS199668725 COX10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS199668814 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS199668827 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS199669141 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS199669486 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS199669594 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS199669878 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS199669988 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS199670451 PTH1R Health Risk Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia
RS199670463 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS199670546 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS199670952 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS199671233 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199671235 TBC1D32 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199671371 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS199671406 CFAP251 Health Risk Likely pathogenic Spermatogenic failure 33, Non-syndromic male infertility due to sperm motility disorder
RS199671906 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS199672102 MICAL3 Health Risk Conflicting classifications of pathogenicity —
RS199672291 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS199672530 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS199672678 PSAP Health Risk Conflicting classifications of pathogenicity Krabbe disease due to saposin A deficiency, Combined PSAP deficiency
RS199672693 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS199672743 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS199673198 ETFA Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2A
RS199673219 NRAP Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS199673248 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS199673396 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS199673397 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS199673441 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases
RS199673454 NFE2L2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, developmental delay
RS199673455 GPD1 Health Risk Pathogenic/Likely pathogenic Transient infantile hypertriglyceridemia and hepatosteatosis, Transient infantile hypertriglyceridemia and hepatosteatosis
RS199673719 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Inborn genetic diseases
RS199673903 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase II deficiency, neonatal form
RS199674363 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS199674847 PROM1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 12, Retinitis pigmentosa
RS199674889 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS199675125 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS199675363 LBR Health Risk Conflicting classifications of pathogenicity —
RS199675436 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS199675507 DDX41 Health Risk Pathogenic/Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS199675558 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS199675692 FUCA1 Health Risk Conflicting classifications of pathogenicity Fucosidosis, Fucosidosis
RS199676230 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS199676313 NLRP5 Health Risk Conflicting classifications of pathogenicity —
RS199676483 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS199676595 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 15
RS199676861 CD3G Health Risk Pathogenic Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS199676994 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Potassium-aggravated myotonia
RS199677396 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS199677738 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS199678003 LTBP4 Health Risk Conflicting classifications of pathogenicity —
RS199678034 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, Congenital myasthenic syndrome
RS199678230 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199678301 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS199678709 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199678720 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS199679165 USH2A Health Risk Pathogenic Rare genetic deafness, Usher syndrome type 2A
RS199679633 COL7A1 Health Risk Pathogenic —
RS199679829 KIF23 Health Risk Conflicting classifications of pathogenicity Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS199680057 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, PANK2-related disorder
RS199680718 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS199681533 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS199681534 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS199681748 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, GSN-related disorder
RS199681788 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS199681901 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS199682045 RP1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199682282 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS199682486 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, Inborn genetic diseases
RS199682587 PEAK1 Health Risk Conflicting classifications of pathogenicity —
RS199682667 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
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