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
RS150984011 TRNT1 Health Risk Conflicting classifications of pathogenicity Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS150984123 ST14 Health Risk Conflicting classifications of pathogenicity —
RS150984265 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS150984603 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS150985118 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS150985434 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Atrial fibrillation
RS150986092 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS150986564 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS150987080 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS150988816 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS150989205 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS150989902 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS150990488 CARD11 Health Risk Conflicting classifications of pathogenicity BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS150990541 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS150990682 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS150991495 CLCN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CLCN2-related disorder
RS150991567 PCSK1 Health Risk Likely pathogenic Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS150993059 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital myopathy, Malignant hyperthermia
RS150993414 KCNC1 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS150994175 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150994426 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS150994921 ATIC Health Risk Likely pathogenic —
RS150994958 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS150995386 MITF Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome
RS150996424 MED17 Health Risk Likely pathogenic —
RS150998139 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS150999168 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS151000177 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS151000791 LZTR1 Health Risk Pathogenic Noonan syndrome 10, Cardiovascular phenotype
RS151001016 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS151001222 TSPEAR Health Risk Conflicting classifications of pathogenicity TSPEAR-related disorder, Inborn genetic diseases
RS151001271 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS151001642 TMC1 Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 7
RS151001666 OGDH Health Risk Conflicting classifications of pathogenicity Oxoglutaricaciduria, OGDH-related disorder
RS151004644 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS151004649 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS151005752 OTOF Health Risk Conflicting classifications of pathogenicity —
RS151005797 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS151006739 ECHS1 Health Risk Likely pathogenic —
RS151006778 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS151009169 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related disorder
RS151009173 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS151009667 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS151010429 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS151011453 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS151013014 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS151013036 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Inborn genetic diseases
RS151014108 NR0B2 Health Risk Conflicting classifications of pathogenicity Obesity, Obesity
RS151015689 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS151016108 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS151016327 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS151017794 LCA5 Health Risk Pathogenic Retinitis pigmentosa, Leber congenital amaurosis 5
RS151018278 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Neuronopathy
RS151018874 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS151019928 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, GHRHR-related disorder
RS151020002 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS151020094 ADGRG1 Health Risk Conflicting classifications of pathogenicity —
RS151020551 PCNT Health Risk Pathogenic/Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS151020603 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS151021451 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS151021564 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS151021623 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases
RS151021715 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS151022897 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS151023145 EZH2 Health Risk Conflicting classifications of pathogenicity Weaver syndrome, Weaver syndrome
RS151024019 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Familial isolated arrhythmogenic right ventricular dysplasia
RS151027205 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151027466 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS151028057 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS151031345 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS151032217 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151032299 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS151033214 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS151033581 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Glycogen storage disease IXc
RS151033645 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS151034190 DYM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151034245 LEFTY2 Health Risk Conflicting classifications of pathogenicity Left-right axis malformations, Left-right axis malformations
RS151034312 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS151036570 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS151036773 ITGA8 Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 1, Inborn genetic diseases
RS151037751 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS151038564 SAMD9 Health Risk Conflicting classifications of pathogenicity SAMD9-related disorder, SAMD9-related disorder
RS151038616 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS151039517 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS151039691 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia, Retinal dystrophy
RS151039810 CUBN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Imerslund-Grasbeck syndrome
RS151040199 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS151041559 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS151044076 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
RS151044620 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS151045115 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS151045328 USH1C Health Risk Pathogenic Usher syndrome type 1C, Usher syndrome type 1
RS151046132 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, ITK-related disorder
RS151046591 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS151046729 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS151047156 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS151047883 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS151048660 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS151048781 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS151048899 UBA5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 44
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