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: rs7557939
rs7557939
BCL11A
1.000 0.080 2 60494212 intron variant G/A snv 0.64
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 1 2011 2011
dbSNP: rs7565301
rs7565301
BCL11A
1.000 0.080 2 60496131 intron variant G/A snv 0.25
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 1 2011 2011
dbSNP: rs7584113
rs7584113
BCL11A
1.000 0.080 2 60494176 intron variant A/G snv 0.64
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 1 2011 2011
dbSNP: rs75853687
rs75853687
LINC01847
0.925 0.080 5 159850278 intron variant G/A snv 1.7E-02
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 1 2018 2018
dbSNP: rs7599488
rs7599488
BCL11A
0.925 0.120 2 60491212 intron variant C/T snv 0.42
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 1 2011 2011
dbSNP: rs7606173
rs7606173
BCL11A
1.000 0.080 2 60498316 intron variant G/C;T snv 0.39
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 1 2011 2011
dbSNP: rs7948471
rs7948471
HBE1 ; HBG2 ; OR51B5 ; OR51I2
1.000 0.080 11 5450516 intron variant G/A snv 0.47
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 1 2013 2013
dbSNP: rs7952106
rs7952106 		1.000 0.080 11 113553836 regulatory region variant G/T snv 0.71
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 1 2013 2013
dbSNP: rs887829
rs887829
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.763 0.280 2 233759924 intron variant C/T snv 0.36
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 1 2012 2012
dbSNP: rs9494145
rs9494145 		0.925 0.080 6 135111414 intergenic variant T/A;C snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 1 2014 2014
dbSNP: rs9714060
rs9714060
MUC4
1.000 0.080 3 195760605 intron variant A/C;G snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 1 2017 2017
dbSNP: rs1427407
rs1427407
BCL11A
0.827 0.120 2 60490908 intron variant T/C;G snv
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.710 1.000 2 2011 2019
dbSNP: rs766432
rs766432
BCL11A
0.925 0.080 2 60492835 intron variant C/A snv 0.80
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.700 1.000 3 2011 2014