Source: CURATED ×
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
11 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