HK1, hexokinase 1, 3098

N. diseases: 161; N. variants: 25
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs16926246
rs16926246
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C0518015
Disease:
Hemoglobin measurement 		0.800 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
dbSNP: rs777849213
rs777849213
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C4479526
Disease:
RETINITIS PIGMENTOSA 79 		A 0.800 GeneticVariation CLINVAR The phenotypic variability of HK1-associated retinal dystrophy. 28765615 2017
dbSNP: rs777849213
rs777849213
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C4479526
Disease:
RETINITIS PIGMENTOSA 79 		A 0.800 GeneticVariation CLINVAR Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP). 26427411 2016
dbSNP: rs777849213
rs777849213
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C4479526
Disease:
RETINITIS PIGMENTOSA 79 		0.800 GeneticVariation UNIPROT A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. 25316723 2014
dbSNP: rs777849213
rs777849213
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C4479526
Disease:
RETINITIS PIGMENTOSA 79 		A 0.800 GeneticVariation CLINVAR A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. 25316723 2014
dbSNP: rs777849213
rs777849213
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C4479526
Disease:
RETINITIS PIGMENTOSA 79 		A 0.800 GeneticVariation CLINVAR A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. 25190649 2014
dbSNP: rs777849213
rs777849213
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C4479526
Disease:
RETINITIS PIGMENTOSA 79 		0.800 GeneticVariation UNIPROT A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. 25190649 2014
dbSNP: rs16926246
rs16926246
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C0018935
Disease:
Hematocrit procedure 		T 0.800 GeneticVariation GWASCAT Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs16926246
rs16926246
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C0018935
Disease:
Hematocrit procedure 		T 0.800 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs16926246
rs16926246
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C0518015
Disease:
Hemoglobin measurement 		T 0.800 GeneticVariation GWASCAT Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs16926246
rs16926246
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C0518015
Disease:
Hemoglobin measurement 		T 0.800 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs137853249
rs137853249
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C3150343
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		0.800 GeneticVariation UNIPROT HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia. 12393545 2003
dbSNP: rs398122379
rs398122379
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C3150343
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		0.800 GeneticVariation UNIPROT HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia. 12393545 2003
dbSNP: rs137853249
rs137853249
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C3150343
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		0.800 GeneticVariation UNIPROT Hexokinase mutations that produce nonspherocytic hemolytic anemia. 7655856 1995
dbSNP: rs398122379
rs398122379
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C3150343
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		0.800 GeneticVariation UNIPROT Hexokinase mutations that produce nonspherocytic hemolytic anemia. 7655856 1995
dbSNP: rs137853249
rs137853249
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C3150343
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		C 0.800 CausalMutation CLINVAR
dbSNP: rs398122379
rs398122379
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C3150343
Disease:
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		G 0.800 CausalMutation CLINVAR
dbSNP: rs777849213
rs777849213
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C4479526
Disease:
RETINITIS PIGMENTOSA 79 		A 0.800 CausalMutation CLINVAR
dbSNP: rs17476364
rs17476364
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs17476364
rs17476364
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs17476364
rs17476364
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs17476364
rs17476364
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2305196
rs2305196
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10823343
rs10823343
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C1281911
Disease:
Hemoglobin A measurement 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association Study of Serum Fructosamine and Glycated Albumin in Adults Without Diagnosed Diabetes: Results From the Atherosclerosis Risk in Communities Study. 29844224 2018
dbSNP: rs11596587
rs11596587
Entrez Id: 3098
Gene Symbol: HK1
HK1
CUI: C1531624
Disease:
Cardioembolic stroke 		T 0.700 GeneticVariation GWASCAT Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018