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
RS190017041 TDRD6 Health Risk Conflicting classifications of pathogenicity —
RS1900181500 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1900184374 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS190024862 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS1900263561 TRIP4 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1
RS190037522 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Intellectual disability
RS190037839 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS190043383 YARS2 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS190043578 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS190048473 DLL1 Health Risk Conflicting classifications of pathogenicity —
RS190057175 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS190058852 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS190059291 RAD51B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS190061397 PRDM5 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS190062687 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1900666405 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1900691662 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1900693709 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1900699130 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder
RS1900702353 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS190070312 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS190072721 GFPT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 12, Gastric cancer
RS190073606 CTNNA3 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13
RS190075874 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1900768625 GRIN2A Health Risk Likely pathogenic —
RS1900773387 GRIN2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Landau-Kleffner syndrome
RS190079343 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1900820269 GRIN2A Health Risk Pathogenic —
RS190086412 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS190098788 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS190101048 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS190101915 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS190102899 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS190106816 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS190111194 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1901211202 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS190123178 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS190125817 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS190126440 GNAT1 Health Risk Pathogenic —
RS190132249 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS190136878 ASXL2 Health Risk Conflicting classifications of pathogenicity Shashi-Pena syndrome, Inborn genetic diseases
RS190139590 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Gastrointestinal stromal tumor
RS190140598 RYR2 Health Risk Pathogenic Ventricular fibrillation, Catecholaminergic polymorphic ventricular tachycardia
RS190142346 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS190144364 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS190144445 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis-Noonan syndrome, Neurofibromatosis
RS190148408 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, COL4A4-related disorder
RS190152638 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS190152688 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS190155337 CDC45 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 7, Inborn genetic diseases
RS190167637 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS190170807 USH2A Health Risk Conflicting classifications of pathogenicity —
RS190172342 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SMARCA2-related disorder
RS190178539 ZNF335 Health Risk Conflicting classifications of pathogenicity ZNF335-related disorder, ZNF335-related disorder
RS190184430 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS190189891 MTFMT Health Risk Conflicting classifications of pathogenicity Microcephaly, Microcephaly
RS190192706 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS190192954 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS190195227 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS1902037470 HBA2 Health Risk Pathogenic alpha Thalassemia, alpha Thalassemia
RS1902161681 HBA1 Health Risk Pathogenic/Likely pathogenic Alpha-thalassemia, Dutch type
RS190219062 SPINK1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS190223302 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS190223587 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS190228362 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS190228518 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Cardiovascular phenotype
RS190235251 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Optic atrophy
RS190236976 RLBP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Newfoundland cone-rod dystrophy
RS190254898 CAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS190259653 EIF2B4 Health Risk Conflicting classifications of pathogenicity —
RS190260215 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS190269533 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS190282707 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS190285831 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS190287033 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4J
RS190288386 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS190298665 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1903003 FAM13A Health Risk association Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
RS190305952 TPM1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3
RS1903130042 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS190313411 SPECC1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS1903138230 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS190314153 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS190315044 GPT2 Health Risk Likely pathogenic Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
RS190315698 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS190325959 FREM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FREM1-related disorder
RS190336010 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS190345740 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS190347120 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS190362395 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS190366845 IFT172 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Short-rib thoracic dysplasia 10 with or without polydactyly
RS190369242 ALS2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 2, juvenile
RS190372148 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Cowden syndrome
RS190373826 SKI Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome
RS190374968 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS190381417 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS190382829 FAM20C Health Risk Conflicting classifications of pathogenicity FAM20C-related disorder, Inborn genetic diseases
RS190383030 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS190386780 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS190386869 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
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