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: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 5 2010 2019
dbSNP: rs837763
rs837763
LOC107984842
16 88787321 upstream gene variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 4 2010 2019
dbSNP: rs9924561
rs9924561
FAM234A
16 264781 intron variant G/A;T snv 2.9E-05; 6.5E-03
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 3 2013 2019
dbSNP: rs13335629
rs13335629
FAM234A
16 260381 intron variant G/A;C snv 1.1E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2013 2019
dbSNP: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 2 2019 2019
dbSNP: rs4820268
rs4820268
TMPRSS6
0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2010 2019
dbSNP: rs551118
rs551118
LOC107984842
16 88789676 upstream gene variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 2 2016 2017
dbSNP: rs10490694
rs10490694
COBLL1
2 164692059 intron variant G/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs10751450
rs10751450
ATP2B4
1 203681817 intron variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs11082512
rs11082512 		18 46139716 intergenic variant G/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2016
dbSNP: rs11086054
rs11086054
MYO9B
19 17135927 intron variant A/C;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs112505971
rs112505971
ANKRD26
10 27068541 intron variant A/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2019 2019
dbSNP: rs115218263
rs115218263
NHLRC4 ; LOC107987233
16 566687 upstream gene variant C/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs12151021
rs12151021
ABCA7
19 1050875 intron variant A/G;T snv 0.69
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs1541252
rs1541252
ATP2B4
1 203682799 5 prime UTR variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2013
dbSNP: rs172111
rs172111 		3 38146503 downstream gene variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs1901282
rs1901282
SLC20A2
8 42537799 non coding transcript exon variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2018
dbSNP: rs198846
rs198846
H1-6
6 26107235 downstream gene variant A/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2017
dbSNP: rs201794926
rs201794926
PPP1R16A
8 144485527 intron variant A/-;AA;AAA;AAAA delins
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs2266928
rs2266928
CAPN15
16 530124 intron variant C/A;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2013 2013
dbSNP: rs2482963
rs2482963
SPTA1
1 158626648 intron variant G/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs2608604
rs2608604
PIEZO1
16 88783013 intron variant A/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2017
dbSNP: rs3123543
rs3123543
ATF3
1 212617344 intron variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2019 2019
dbSNP: rs3218097
rs3218097
CCND3
6 41937537 intron variant G/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2017
dbSNP: rs33930165
rs33930165
HBB
0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2017 2017