HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: Finding of Mean Corpuscular Hemoglobin ×
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: rs1800562
rs1800562 		0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 3 2010 2013
dbSNP: rs1799945
rs1799945 		0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs2032451
rs2032451 		6 26091942 intron variant G/T snv 0.10
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2017 2017
dbSNP: rs2794719
rs2794719 		0.925 0.120 6 26088662 intron variant T/C;G snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012