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
RS148867097 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS1488679790 NR2E3 Health Risk Likely pathogenic —
RS1488681878 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS148868283 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS148868379 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS148869069 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1488690709 SYNJ1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 53
RS1488695477 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS148869805 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS1488698763 XPR1 Health Risk Likely pathogenic Basal ganglia calcification, idiopathic
RS148870571 PCDHA1 Health Risk Conflicting classifications of pathogenicity —
RS148870667 C3 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Age related macular degeneration 9
RS1488708341 SPG11 Health Risk Pathogenic —
RS148870919 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS148871044 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS148871144 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, EPB42-related disorder
RS1488711963 ACBD5 Health Risk Likely pathogenic —
RS148872370 PXDNL Health Risk Conflicting classifications of pathogenicity PXDNL-related disorder, PXDNL-related disorder
RS1488726432 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1488727812 YARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate C, Charcot-Marie-Tooth disease dominant intermediate C
RS148873732 ANO10 Health Risk Conflicting classifications of pathogenicity —
RS1488745091 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome 1
RS1488746272 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS148875137 IMPDH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148877230 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS148877817 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Intellectual developmental disorder
RS148877937 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS148877970 CYP17A1 Health Risk Pathogenic —
RS148878262 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS148879406 MFAP5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, MFAP5-related disorder
RS1488795500 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS148879912 POLR3B Health Risk Pathogenic Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
RS148880349 HDAC4 Health Risk Conflicting classifications of pathogenicity —
RS1488808726 MACF1 Health Risk Pathogenic/Likely pathogenic Lissencephaly 9 with complex brainstem malformation, Lissencephaly
RS148881448 C9 Health Risk Pathogenic —
RS1488814919 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS148881970 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS148883126 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS148883310 UNC13A Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, UNC13A-related disorder
RS148883810 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS148883988 PYCR1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, Cutis laxa
RS1488840592 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia, Citrullinemia type I
RS148884257 DGCR8 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS148884293 PCDH12 Health Risk Pathogenic/Likely pathogenic Diencephalic-mesencephalic junction dysplasia, Disorder of development or morphogenesis
RS1488844530 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1488845742 PACS2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 66
RS148885407 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS148886916 NFAT5 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, Familial cancer of breast
RS148887050 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS1488871836 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1488871976 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 10
RS148887665 GFAP Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS1488881909 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS148888513 FBN1 Health Risk Conflicting classifications of pathogenicity 8 conditions, Familial thoracic aortic aneurysm and aortic dissection
RS148888682 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 5
RS1488895098 UPF2 Health Risk Pathogenic —
RS148889712 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS1488901592 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS148890852 ZNHIT3 Health Risk Likely pathogenic PEHO syndrome, PEHO syndrome
RS148891849 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS148893135 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1488937281 ASNS Health Risk Pathogenic/Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS148893823 NARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, impaired language
RS148894015 TELO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148894066 DSP Health Risk Likely pathogenic Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8
RS148894687 KDM6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1488953322 NHLRC2 Health Risk Pathogenic Fibrosis, neurodegeneration
RS148895570 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148896355 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS148897041 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Inborn genetic diseases
RS1488977812 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1488986619 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS148898662 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1488991121 CACNA1A Health Risk Likely pathogenic —
RS1488999396 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1489002936 MACF1 Health Risk Conflicting classifications of pathogenicity MACF1-related disorder, MACF1-related disorder
RS148900299 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, DNM2-related disorder
RS1489010290 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS148901752 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1489021418 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS148902192 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS1489025810 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS148903585 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy
RS1489037110 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS1489040931 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS148904454 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS148904634 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS148905512 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS148907377 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS148907696 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases
RS148908208 MYOZ2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1489084379 DMRT2 Health Risk Pathogenic —
RS148908731 GABRD Health Risk Conflicting classifications of pathogenicity EEG abnormality, Idiopathic generalized epilepsy
RS148909799 MTRR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
RS148909909 SNORD118;TMEM107 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with calcifications and cysts, Meckel syndrome 13
RS148910161 MAMLD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148910210 BLOC1S3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, BLOC1S3-related disorder
RS148910227 CD36 Health Risk Likely pathogenic Platelet-type bleeding disorder 10, CD36-related disorder
RS1489114116 ADA2 Health Risk Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases, Deficiency of adenosine deaminase 2
RS148912436 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
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