HBE1, hemoglobin subunit epsilon 1, 3046

N. diseases: 41; N. variants: 29
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: rs557129696
rs557129696
11 5307453 intron variant T/G snv 2.4E-04
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
0.700 1.000 1 2017 2017
dbSNP: rs67385638
rs67385638
11 5269140 intron variant C/G;T snv
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
0.700 1.000 1 2015 2015