SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS121918312 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS121918313 LRP6 Health Risk Pathogenic Coronary artery disease, autosomal dominant 2
RS121918314 BCL10 Health Risk Pathogenic MALE GERM CELL TUMOR, SOMATIC
RS121918315 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS121918316 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS121918317 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS121918318 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS121918319 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS121918320 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS121918321 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS121918322 FGF9 Health Risk Pathogenic Multiple synostoses syndrome 3, Multiple synostoses syndrome 3
RS121918323 PPOX Health Risk Pathogenic Variegate porphyria, Variegate porphyria
RS121918324 PPOX Health Risk Pathogenic Variegate porphyria, childhood-onset
RS121918325 PPOX Health Risk Pathogenic/Likely pathogenic Variegate porphyria, childhood-onset
RS121918326 PPOX Health Risk Pathogenic Variegate porphyria, Variegate porphyria
RS121918327 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS121918328 BBS12 Health Risk Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS121918329 HIBCH Health Risk Conflicting classifications of pathogenicity 3-hydroxyisobutyryl-CoA hydrolase deficiency, Inborn genetic diseases
RS121918330 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS121918331 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS121918332 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS121918334 SLC25A22 Health Risk Pathogenic/Likely pathogenic Early myoclonic encephalopathy, Developmental and epileptic encephalopathy
RS121918335 SLC25A22 Health Risk Pathogenic Developmental and epileptic encephalopathy, 3
RS121918336 PIKFYVE Health Risk Pathogenic Fleck corneal dystrophy, Fleck corneal dystrophy
RS121918337 PIKFYVE Health Risk Pathogenic Fleck corneal dystrophy, Fleck corneal dystrophy
RS121918338 CARD9 Health Risk Pathogenic Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS121918339 SLC17A8 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 25, Autosomal dominant nonsyndromic hearing loss 25
RS121918340 NSMF Health Risk risk factor Hypogonadotropic hypogonadism 9 with or without anosmia, Hypogonadotropic hypogonadism 9 with or without anosmia
RS121918341 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS121918342 AKR1D1 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS121918343 AKR1D1 Health Risk Pathogenic Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS121918344 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS121918347 SMO Health Risk Pathogenic Basal cell carcinoma, somatic
RS121918348 SMO Health Risk Pathogenic Basal cell carcinoma, somatic
RS121918349 WNT10B Health Risk Pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS121918350 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS121918351 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia
RS121918352 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia
RS121918353 JAG1 Health Risk Likely pathogenic Deafness, congenital heart defects
RS121918354 PKP1 Health Risk Pathogenic Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS121918355 LTBP2 Health Risk Pathogenic Glaucoma 3, primary congenital
RS121918356 LTBP2 Health Risk Pathogenic Glaucoma 3, primary congenital
RS121918357 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS121918358 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Proximal spinal muscular atrophy
RS121918359 SMAD9 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS121918360 PDE8B Health Risk Pathogenic Pigmented nodular adrenocortical disease, primary
RS121918361 ARHGEF9 Health Risk Pathogenic Developmental and epileptic encephalopathy, 8
RS121918363 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS121918365 SLC11A2 Health Risk Pathogenic Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
RS121918366 SLC11A2 Health Risk Pathogenic Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
RS121918367 SLC11A2 Health Risk Pathogenic Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
RS121918368 CRBN Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 2
RS121918370 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, LOXHD1-related disorder
RS121918371 PGM1 Health Risk Pathogenic PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS121918374 PYCR1 Health Risk Pathogenic Autosomal recessive cutis laxa type 2B, Inborn genetic diseases
RS121918375 PYCR1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive cutis laxa type 2B, Cutis laxa
RS121918376 PYCR1 Health Risk Pathogenic Autosomal recessive cutis laxa type 2B, Cutis laxa
RS121918377 PYCR1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive cutis laxa type 2B, PYCR1-related de Barsy syndrome
RS121918378 PYCR1 Health Risk Pathogenic/Likely pathogenic PYCR1-related de Barsy syndrome, Inborn genetic diseases
RS121918379 RDX Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS121918380 RDX Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS121918381 APOC3 Health Risk Pathogenic Apolipoprotein C-III, nonglycosylated
RS121918382 APOC3 Health Risk Pathogenic Apolipoprotein c-III deficiency, Apolipoprotein c-III deficiency
RS121918383 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia 1
RS121918384 APOB Health Risk Pathogenic/Likely pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia 1
RS121918385 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia
RS121918386 APOB Health Risk Pathogenic/Likely pathogenic Familial hypobetalipoproteinemia, Familial hypercholesterolemia
RS121918387 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia 1
RS121918388 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS121918389 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia
RS121918390 APOB Health Risk Pathogenic/Likely pathogenic Familial hypobetalipoproteinemia, Familial hypobetalipoproteinemia 1
RS121918391 APOB Health Risk Pathogenic Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS121918392 APOE Health Risk Pathogenic HYPERLIPOPROTEINEMIA, TYPE III
RS121918393 APOE Health Risk Likely pathogenic Familial type 3 hyperlipoproteinemia, Familial hypercholesterolemia
RS121918394 APOE Health Risk Pathogenic Familial type 3 hyperlipoproteinemia, Hyperlipoproteinemia
RS121918395 APOE Health Risk Pathogenic APOE2-DUNEDIN, HYPERLIPOPROTEINEMIA
RS121918396 APOE Health Risk Likely pathogenic Familial type 3 hyperlipoproteinemia, HYPERLIPOPROTEINEMIA
RS121918397 APOE Health Risk Pathogenic Familial type 3 hyperlipoproteinemia, Lipoprotein glomerulopathy
RS121918398 APOE Health Risk Pathogenic APOE4 VARIANT, APOE4 VARIANT
RS121918399 APOE Health Risk Pathogenic/Likely pathogenic Lipoprotein glomerulopathy, 7 conditions
RS121918400 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS121918401 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS121918402 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS121918403 ENO3 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
RS121918405 FOLR1 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS121918406 FOLR1 Health Risk Pathogenic Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS121918407 GPD2 Health Risk Pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS121918408 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hereditary hyperekplexia
RS121918409 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hyperekplexia 1
RS121918410 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hereditary hyperekplexia
RS121918411 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hyperekplexia 1
RS121918412 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hyperekplexia 1
RS121918413 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hyperekplexia 1
RS121918414 GLRA1 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 1, Hereditary hyperekplexia
RS121918415 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hereditary hyperekplexia
RS121918416 GLRA1 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 1, GLRA1-related disorder
RS121918417 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hyperekplexia 1
RS121918418 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hereditary hyperekplexia
RS121918419 GYS2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disease
RS121918420 GYS2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
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