Source: GWASDB

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: rs766432
rs766432
BCL11A
0.925 0.080 2 60492835 intron variant C/A snv 0.80
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 4 2007 2016
dbSNP: rs10172646
rs10172646
BCL11A
1.000 0.080 2 60493622 intron variant G/A snv 0.64
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 3 2007 2011
dbSNP: rs10195871
rs10195871
BCL11A
1.000 0.080 2 60493454 intron variant A/G;T snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 3 2007 2012
dbSNP: rs11886868
rs11886868
BCL11A
0.752 0.280 2 60493111 intron variant C/T snv 0.65
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 3 2007 2011
dbSNP: rs5006884
rs5006884
HBE1 ; HBG2 ; OR51B5 ; OR51B6
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: rs6706648
rs6706648
BCL11A
1.000 0.080 2 60494905 intron variant C/G;T snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 3 2007 2012
dbSNP: rs9399137
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 3 2007 2015
dbSNP: rs1427407
rs1427407
BCL11A
0.827 0.120 2 60490908 intron variant T/C;G snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 2 2007 2014
dbSNP: rs1896294
rs1896294
BCL11A
1.000 0.080 2 60491939 intron variant C/G;T snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 2 2007 2011
dbSNP: rs4671393
rs4671393
BCL11A
0.790 0.400 2 60493816 intron variant A/C;G snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 2 2007 2015
dbSNP: rs4910742
rs4910742
HBE1 ; HBG2
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: rs6738440
rs6738440
BCL11A
1.000 0.080 2 60495106 intron variant A/G snv 0.26
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 2 2011 2012
dbSNP: rs7557939
rs7557939
BCL11A
1.000 0.080 2 60494212 intron variant G/A snv 0.64
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 2 2007 2011
dbSNP: rs7584113
rs7584113
BCL11A
1.000 0.080 2 60494176 intron variant A/G snv 0.64
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 2 2007 2011
dbSNP: rs10189857
rs10189857
BCL11A
1.000 0.080 2 60486100 intron variant A/G snv 0.42
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 1 2011 2011
dbSNP: rs11968814
rs11968814 		1.000 0.080 6 71067268 intergenic variant G/A snv 4.4E-02
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 1 2011 2011
dbSNP: rs1318772
rs1318772
MCC
1.000 0.080 5 113387870 intron variant A/G snv 0.18
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 1 2011 2011
dbSNP: rs1896295
rs1896295
BCL11A
1.000 0.080 2 60496951 intron variant T/C snv 0.81
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 1 2011 2011
dbSNP: rs1896296
rs1896296
BCL11A
1.000 0.080 2 60496952 intron variant G/T snv 0.80
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 1 2011 2011
dbSNP: rs6545816
rs6545816
BCL11A
1.000 0.080 2 60487726 intron variant A/C;G snv 0.50
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 1 2011 2011
dbSNP: rs6545817
rs6545817
BCL11A
1.000 0.080 2 60488044 intron variant C/T snv 0.49
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 1 2011 2011
dbSNP: rs6729815
rs6729815
BCL11A
1.000 0.080 2 60496537 intron variant T/C snv 0.49
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 1 2011 2011
dbSNP: rs7565301
rs7565301
BCL11A
1.000 0.080 2 60496131 intron variant G/A snv 0.25
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 1 2011 2011
dbSNP: rs7599488
rs7599488
BCL11A
0.925 0.120 2 60491212 intron variant C/T snv 0.42
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 1 2011 2011
dbSNP: rs7606173
rs7606173
BCL11A
1.000 0.080 2 60498316 intron variant G/C;T snv 0.39
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.800 1.000 1 2011 2011