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: rs33950507
rs33950507
HBB
8 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.710 1.000 1 2015 2015
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: 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: rs33931746
rs33931746
HBB
6 0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv 0.700 0
dbSNP: rs33931779
rs33931779
HBB
1 1.000 0.080 11 5226710 stop lost A/G;T 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: rs33941844
rs33941844
HBB
2 1.000 0.080 11 5225722 missense variant 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
dbSNP: rs33951465
rs33951465
HBB
3 0.882 0.080 11 5226947 splice region variant A/C;T snv 4.0E-06 0.700 0
dbSNP: rs33972047
rs33972047
HBB
4 0.851 0.080 11 5226963 missense variant T/C 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: rs33980857
rs33980857
HBB
5 0.827 0.280 11 5227101 5 prime UTR variant A/C;G;T snv 0.700 0
dbSNP: rs33981098
rs33981098
HBB
5 0.827 0.280 11 5227102 5 prime UTR variant T/C;G snv 0.700 0
dbSNP: rs33985472
rs33985472
HBB
3 0.925 0.080 11 5225485 3 prime UTR variant T/C snv 0.700 0
dbSNP: rs33994806
rs33994806
HBB
2 0.925 0.080 11 5227157 5 prime UTR variant G/A;C;T snv 0.700 0
dbSNP: rs34500389
rs34500389
HBB
4 0.851 0.280 11 5227103 5 prime UTR variant G/A;T snv 0.700 0
dbSNP: rs34502690
rs34502690
HBB
1 1.000 0.080 11 5225657 inframe deletion CCT/- del 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: rs34690599
rs34690599
HBB
10 0.763 0.080 11 5225832 intron variant G/C snv 2.8E-05 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: rs35004220
rs35004220
HBB
11 0.752 0.080 11 5226820 non coding transcript exon variant C/T snv 1.6E-04 9.1E-05 0.700 0
dbSNP: rs35256489
rs35256489
HBB
6 0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs35424040
rs35424040
HBB
6 0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs35724775
rs35724775
HBB
10 0.763 0.080 11 5226924 splice region variant A/G;T snv 1.2E-04 0.700 0
dbSNP: rs35949130
rs35949130
HBB
1 1.000 0.080 11 5225484 3 prime UTR variant TTATT/- delins 0.700 0