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: rs10160596
rs10160596
EHBP1L1
11 65583893 non coding transcript exon variant G/A snv 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
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: rs1043879
rs1043879
RSRP1
1 25243590 missense variant T/C snv 0.20 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs10445033
rs10445033
PIEZO1
16 88774054 intron variant G/A snv 0.49
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2019
dbSNP: rs10468482
rs10468482
PFAS
17 8259502 intron variant T/C snv 0.70
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
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: 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: 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: rs11167699
rs11167699 		5 154671354 intergenic variant C/T snv 8.8E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs11205823
rs11205823
MACF1
1 39248566 intron variant T/A snv 0.66
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs1122794
rs1122794
FAM234A
16 259156 intron variant C/A snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 1 2012 2013
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: 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: rs113809617
rs113809617
NDOR1 ; TMEM203
9 137205865 missense variant C/G snv 0.13 0.12
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs113837888
rs113837888
MIR200C ; LOC105369634 ; MIR200CHG
12 6961966 upstream gene variant C/T snv 1.1E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
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: rs115849089
rs115849089 		8 20054859 intergenic variant G/A snv 9.8E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs11627485
rs11627485
FNTB ; MAX ; CHURC1-FNTB
14 65020976 intron variant T/C snv 0.36
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs11670056
rs11670056
ELL
1.000 0.040 19 18479133 intron variant C/T snv 5.2E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs11735662
rs11735662 		4 144104973 intron variant C/T snv 2.1E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
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: rs117656550
rs117656550
SLC12A7
5 1068885 intron variant G/A snv 9.7E-03
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018