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: rs3840870
rs3840870
COL1A1
17 50184820 3 prime UTR variant -/CTTG delins
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2019 2019
dbSNP: rs3215645
rs3215645
SPTB
14 64796872 intron variant -/T delins 0.44
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
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: rs2269906
rs2269906
UBTF ; LOC101926967
17 44216969 intron variant A/C snv 0.52
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2017
dbSNP: rs28448745
rs28448745
ERAL1 ; MIR144 ; MIR451A ; MIR451B ; MIR4732
17 28861278 non coding transcript exon variant A/C snv 0.77
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs7760949
rs7760949 		6 13920307 upstream gene variant A/C snv 0.38
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
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: rs4238686
rs4238686
PIEZO1
16 88722526 non coding transcript exon variant A/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs7551442
rs7551442
ATP2B4
1 203685993 intron variant A/C;G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2017
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: rs61823972
rs61823972
TMCC2
1 205232197 intron variant A/C;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs7776054
rs7776054
HBS1L
6 135097778 intron variant A/G snv 0.24
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 3 2012 2018
dbSNP: rs10192562
rs10192562
ZEB2
2 144426749 non coding transcript exon variant A/G snv 7.1E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs1031868
rs1031868 		8 97627834 upstream gene variant A/G snv 0.11
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs11085824
rs11085824
GCDH
19 12890733 upstream gene variant A/G snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2016
dbSNP: rs11245998
rs11245998
BET1L ; RIC8A ; MIR6743
11 207462 upstream gene variant A/G snv 0.68
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs1175550
rs1175550
SMIM1
1 3774964 intron variant A/G snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2016
dbSNP: rs12491937
rs12491937 		3 12226744 intergenic variant A/G snv 0.47
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs13331259
rs13331259
FAM234A
16 249924 intron variant A/G snv 3.0E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2019 2019
dbSNP: rs13339636
rs13339636
FAM234A
16 248589 intron variant A/G snv 3.8E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2013 2017
dbSNP: rs151330263
rs151330263
FAM234A
16 252162 intron variant A/G snv 1.0E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2019 2019
dbSNP: rs2075672
rs2075672
TFR2 ; ACTL6B
7 100642673 intron variant A/G snv 0.65
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2016
dbSNP: rs28398409
rs28398409 		1 198614892 intergenic variant A/G snv 7.3E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs2882877
rs2882877
SLC40A1
2 189576591 intron variant A/G snv 0.41
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs346522
rs346522 		19 43758393 upstream gene variant A/G snv 0.33
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2018