Source: GWASCAT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs855791
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 6 2010 2018
dbSNP: rs1408272
rs1408272
SLC17A3
6 25842723 intron variant T/G snv 4.0E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 4 2009 2017
dbSNP: rs7775698
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 4 2009 2013
dbSNP: rs1047891
rs1047891
CPS1
0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 3 2016 2019
dbSNP: rs1434282
rs1434282
LINC01221
1 199041592 non coding transcript exon variant C/T snv 0.76
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 3 2016 2019
dbSNP: rs218237
rs218237 		4 54528005 intergenic variant C/T snv 0.18
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 3 2010 2019
dbSNP: rs2413450
rs2413450
TMPRSS6
22 37074184 intron variant T/C snv 0.61
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 3 2009 2017
dbSNP: rs628751
rs628751 		6 139517282 intron variant C/A snv 0.41
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 3 2009 2019
dbSNP: rs6592965
rs6592965
IKZF1
7 50360284 intron variant G/A snv 0.47
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 3 2016 2019
dbSNP: rs7776054
rs7776054
HBS1L
6 135097778 intron variant A/G snv 0.24
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 3 2009 2018
dbSNP: rs9349205
rs9349205
CCND3
6 41957421 intron variant G/A;C snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 3 2009 2018
dbSNP: rs10160596
rs10160596
EHBP1L1
11 65583893 non coding transcript exon variant G/A snv 0.20
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs1050828
rs1050828
G6PD
0.790 0.200 X 154536002 missense variant C/T snv 9.1E-03 3.6E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2013 2017
dbSNP: rs10758656
rs10758656
RCL1
9 4852599 intron variant A/G snv 0.19
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2017 2019
dbSNP: rs10758658
rs10758658
RCL1
9 4856877 intron variant G/A snv 0.15
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2009 2017
dbSNP: rs10849023
rs10849023 		12 4223312 intergenic variant C/T snv 0.22
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2012 2017
dbSNP: rs10923397
rs10923397 		1 117708521 regulatory region variant C/T snv 0.14
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs11085824
rs11085824
GCDH
19 12890733 upstream gene variant A/G snv 0.31
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2009 2017
dbSNP: rs112233623
rs112233623
CCND3
6 41957260 intron variant C/T snv 7.0E-03
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs1122794
rs1122794
FAM234A
16 259156 intron variant C/A snv 0.19
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2009 2017
dbSNP: rs1134634
rs1134634
CC2D2A
4 15601446 3 prime UTR variant G/C;T snv 0.58; 9.4E-06
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs113809617
rs113809617
NDOR1 ; TMEM203
9 137205865 missense variant C/G snv 0.13 0.12
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs11627485
rs11627485
FNTB ; MAX ; CHURC1-FNTB
14 65020976 intron variant T/C snv 0.36
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs116908763
rs116908763
CTDSPL2
15 44427813 5 prime UTR variant C/T snv 2.3E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs117565673
rs117565673
CBFA2T3
16 88977046 5 prime UTR variant T/C snv 3.7E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019