Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs67072384
rs67072384
ARAP1
2 0.925 0.080 11 72739679 intron variant C/T snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs6729815
rs6729815
BCL11A
4 1.000 0.080 2 60496537 intron variant T/C snv 0.49 0.700 1.000 1 2011 2011
dbSNP: rs6738440
rs6738440
BCL11A
2 1.000 0.080 2 60495106 intron variant A/G snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs7216169
rs7216169
RABEP1
1 1.000 0.080 17 5316216 intron variant C/T snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs7557939
rs7557939
BCL11A
2 1.000 0.080 2 60494212 intron variant G/A snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs7565301
rs7565301
BCL11A
3 1.000 0.080 2 60496131 intron variant G/A snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs7584113
rs7584113
BCL11A
2 1.000 0.080 2 60494176 intron variant A/G snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs75853687
rs75853687
LINC01847
2 0.925 0.080 5 159850278 intron variant G/A snv 1.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs7599488
rs7599488
BCL11A
4 0.925 0.120 2 60491212 intron variant C/T snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs7606173
rs7606173
BCL11A
5 1.000 0.080 2 60498316 intron variant G/C;T snv 0.39 0.700 1.000 1 2011 2011
dbSNP: rs7948471
rs7948471
HBE1 ; HBG2 ; OR51B5 ; OR51I2
1 1.000 0.080 11 5450516 intron variant G/A snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs7952106
rs7952106 		2 1.000 0.080 11 113553836 regulatory region variant G/T snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs887829
rs887829
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
18 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs9494145
rs9494145 		11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs9714060
rs9714060
MUC4
1 1.000 0.080 3 195760605 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs111645889
rs111645889
HBB
1 1.000 0.080 11 5225653 missense variant G/A;T snv 2.0E-05 0.700 0
dbSNP: rs11549407
rs11549407
HBB
11 0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04 0.700 0
dbSNP: rs33914668
rs33914668
HBB
2 0.925 0.080 11 5225728 splice acceptor variant T/C;G snv 8.0E-06 0.700 0
dbSNP: rs33915217
rs33915217
HBB
11 0.752 0.080 11 5226925 splice region variant C/A;G;T snv 4.0E-06; 5.9E-04; 4.0E-06 0.700 0
dbSNP: rs33922842
rs33922842
HBB
4 0.882 0.080 11 5226762 stop gained C/A;G;T snv 2.8E-04; 4.0E-06 0.700 0
dbSNP: rs33930165
rs33930165
HBB
5 0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 0.700 0
dbSNP: rs33931746
rs33931746
HBB
6 0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv 0.700 0
dbSNP: rs33941377
rs33941377
HBB
12 0.752 0.080 11 5227158 5 prime UTR variant G/A;C;T snv 0.700 0
dbSNP: rs33941849
rs33941849
HBB
4 0.851 0.080 11 5227020 start lost A/C;G;T snv 0.700 0
dbSNP: rs33944208
rs33944208
HBB
12 0.752 0.080 11 5227159 5 prime UTR variant G/A;C;T snv 0.700 0