HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42
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: rs34474104
rs34474104 		1.000 11 5254417 missense variant G/A snv
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.800 1.000 6 1989 2014
dbSNP: rs34878913
rs34878913 		1.000 11 5254482 missense variant A/G snv
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.800 1.000 6 1989 2014
dbSNP: rs35103459
rs35103459 		0.925 0.040 11 5254330 missense variant G/A snv
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.800 1.000 6 1989 2014
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: rs372091
rs372091 		1.000 0.040 11 5496926 intron variant A/G;T snv
CUI: C0024530
Disease: Malaria
Malaria 		Infections 0.800 1.000 1 2012 2012
dbSNP: rs587776864
rs587776864 		1.000 11 5254405 missense variant C/A;T snv
CUI: C3151421
Disease: CYANOSIS, TRANSIENT NEONATAL
CYANOSIS, TRANSIENT NEONATAL 		0.800 0
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: rs2213169
rs2213169 		11 5281833 intron variant G/A;T snv 4.2E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 2 2013 2019
dbSNP: rs7482144
rs7482144 		0.882 0.280 11 5254939 3 prime UTR variant G/A snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 2 2007 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: rs112176573
rs112176573 		11 5276199 intron variant G/A snv 0.33
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs112176573
rs112176573 		11 5276199 intron variant G/A snv 0.33
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs12295181
rs12295181 		11 5270506 intron variant C/T snv 0.11
CUI: C1285654
Disease: Memory performance
Memory performance 		0.700 1.000 1 2018 2018
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: rs2213169
rs2213169 		11 5281833 intron variant G/A;T snv 4.2E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2013 2013
dbSNP: rs2213169
rs2213169 		11 5281833 intron variant G/A;T snv 4.2E-02
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2013 2013
dbSNP: rs2213169
rs2213169 		11 5281833 intron variant G/A;T snv 4.2E-02
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2013 2013
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