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: rs33913413
rs33913413
HBB
4 0.851 0.080 11 5225729 splice region variant G/A;C;T snv 1.2E-05; 4.0E-06 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: rs33944208
rs33944208
HBB
12 0.752 0.080 11 5227159 5 prime UTR variant G/A;C;T snv 0.700 0
dbSNP: rs33978907
rs33978907
HBB
4 0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv 0.700 0
dbSNP: rs34598529
rs34598529
HBB
14 0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 0.700 0
dbSNP: rs34999973
rs34999973
HBB
3 0.882 0.080 11 5227161 5 prime UTR variant G/A;C snv 4.2E-05 0.700 0
dbSNP: rs36015961
rs36015961
HBB
3 0.925 0.080 11 5225698 missense variant A/G snv 0.700 0
dbSNP: rs11886868
rs11886868
BCL11A
12 0.752 0.280 2 60493111 intron variant C/T snv 0.65 0.010 1.000 1 2010 2010
dbSNP: rs4895441
rs4895441
LOC105378010
10 0.925 0.080 6 135105435 upstream gene variant A/G snv 0.21 0.010 1.000 1 2010 2010
dbSNP: rs7482144
rs7482144
HBG2
4 0.882 0.280 11 5254939 3 prime UTR variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2008 2008