HBE1, hemoglobin subunit epsilon 1, 3046

N. diseases: 41; N. variants: 29
Disease: Fetal hemoglobin determination ×
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: rs5006884
rs5006884 		11 5352021 missense variant C/T snv 0.24 0.27
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 3 2010 2012
dbSNP: rs4910742
rs4910742 		11 5285279 intron variant G/A;T snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 2 2008 2011
dbSNP: rs1391619
rs1391619 		11 5434699 intron variant G/A;C snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 2 2008 2011
dbSNP: rs10768980
rs10768980 		11 5470803 intron variant C/G snv 0.55
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs10837767
rs10837767 		11 5296323 intron variant T/G snv 0.51
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs11037191
rs11037191 		11 5390842 3 prime UTR variant A/G snv 4.6E-02
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs11037417
rs11037417 		11 5427313 intron variant G/A snv 0.24
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs11037444
rs11037444 		11 5440855 synonymous variant G/A snv 0.21 0.19
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs11037866
rs11037866 		11 5504641 intron variant C/T snv 0.26
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs1353735
rs1353735 		11 5429967 intron variant G/A snv 0.18
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs17359438
rs17359438 		11 5420996 intron variant T/C snv 0.14
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs2340349
rs2340349 		11 5434316 intron variant C/T snv 0.18
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs2340653
rs2340653 		11 5430531 intron variant G/A snv 0.78
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs2471991
rs2471991 		11 5420393 intron variant A/G snv 0.12
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs2647579
rs2647579 		11 5419057 intron variant A/G snv 0.12
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs2647593
rs2647593 		11 5466366 intron variant G/A snv 0.67
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs2736544
rs2736544 		11 5380030 intron variant A/G snv 0.20
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs411732
rs411732 		11 5472154 intron variant A/G snv 0.18
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs435810
rs435810 		11 5497748 intron variant C/T snv 0.70
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs67385638
rs67385638 		11 5269140 intron variant C/G;T snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2015 2015
dbSNP: rs7106553
rs7106553 		11 5470338 intron variant G/A snv 0.57
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008