NRF1, nuclear respiratory factor 1, 4899

N. diseases: 74; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11557288
rs11557288
Entrez Id: 4899;100885864
Gene Symbol: NRF1;RNA5SP244
NRF1;RNA5SP244
CUI: C0427460
Disease:
Red cell distribution width determination 		G 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs11557288
rs11557288
Entrez Id: 4899;100885864
Gene Symbol: NRF1;RNA5SP244
NRF1;RNA5SP244
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		G 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs6961102
rs6961102
Entrez Id: 4899
Gene Symbol: NRF1
NRF1
CUI: C3828530
Disease:
Platelet Component Distribution Width Measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs7788849
rs7788849
Entrez Id: 4899
Gene Symbol: NRF1
NRF1
CUI: C0032181
Disease:
Platelet Count measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1882094
rs1882094
Entrez Id: 4899
Gene Symbol: NRF1
NRF1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE One common haplotype (H2) mainly composed of SNPs rs6969098 (-24833 A>G), rs1882094, and another novel variant (+97884G>A) was significantly associated with type 2 diabetes (P = 0.016, OR 0.706). 18071027 2008
dbSNP: rs6969098
rs6969098
Entrez Id: 4899
Gene Symbol: NRF1
NRF1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE One common haplotype (H2) mainly composed of SNPs rs6969098 (-24833 A>G), rs1882094, and another novel variant (+97884G>A) was significantly associated with type 2 diabetes (P = 0.016, OR 0.706). 18071027 2008