NRF1, nuclear respiratory factor 1, 4899

N. diseases: 74; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11557288
rs11557288 		7 129756334 3 prime UTR variant C/A;G;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs11557288
rs11557288 		7 129756334 3 prime UTR variant C/A;G;T snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs6961102
rs6961102 		7 129609932 non coding transcript exon variant T/A;G snv
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs7788849
rs7788849 		7 129642078 intron variant C/A;G snv 0.90
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1882094
rs1882094 		1.000 0.080 7 129657492 synonymous variant T/A;G snv 2.4E-05; 0.38
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6969098
rs6969098 		1.000 0.080 7 129632518 intron variant G/A snv 0.19
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008