Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs33931779
HBB
1.000 0.080 11 5226710 stop lost A/G;T snv 1
rs34502690
HBB
1.000 0.080 11 5225657 inframe deletion CCT/- del 1
rs35949130
HBB
1.000 0.080 11 5225484 3 prime UTR variant TTATT/- delins 1
rs63750954
HBB
1.000 0.080 11 5225486 3 prime UTR variant T/A;C snv 1
rs33935445
HBB
0.925 0.080 11 5226978 missense variant A/C;G snv 2
rs33941844
HBB
1.000 0.080 11 5225722 missense variant A/C;G;T snv 2
rs33994806
HBB
0.925 0.080 11 5227157 5 prime UTR variant G/A;C;T snv 2
rs63751128
HBB
0.925 0.080 11 5225487 3 prime UTR variant T/C snv 1.4E-05 2
rs63751208
HBB
0.925 0.080 11 5227172 5 prime UTR variant G/A snv 5.6E-05 2
rs33951465
HBB
0.882 0.080 11 5226947 splice region variant A/C;T snv 4.0E-06 3
rs33985472
HBB
0.925 0.080 11 5225485 3 prime UTR variant T/C snv 3
rs34999973
HBB
0.882 0.080 11 5227161 5 prime UTR variant G/A;C snv 4.2E-05 3
rs3191333 0.882 0.080 8 102649991 3 prime UTR variant G/A snv 0.31 3
rs980112 0.882 0.080 8 102653285 intron variant C/A;T snv 3
rs2236599 0.882 0.080 9 107487224 non coding transcript exon variant C/T snv 0.18 0.15 3
rs33913413
HBB
0.851 0.080 11 5225729 splice region variant G/A;C;T snv 1.2E-05; 4.0E-06 4
rs33972047
HBB
0.851 0.080 11 5226963 missense variant T/C snv 4
rs33978907
HBB
0.851 0.080 11 5225488 3 prime UTR variant A/G;T snv 4
rs34500389
HBB
0.851 0.280 11 5227103 5 prime UTR variant G/A;T snv 4
rs766814208 0.851 0.120 10 95823259 synonymous variant C/T snv 1.6E-05 2.8E-05 5
rs33980857
HBB
0.827 0.280 11 5227101 5 prime UTR variant A/C;G;T snv 5
rs33981098
HBB
0.827 0.280 11 5227102 5 prime UTR variant T/C;G snv 5
rs33931746
HBB
0.807 0.280 11 5227099 5 prime UTR variant T/C;G snv 6
rs35256489
HBB
0.827 0.080 11 5225710 missense variant A/G snv 4.0E-06 2.1E-05 6
rs35424040
HBB
0.827 0.080 11 5226940 missense variant C/A;G;T snv 1.2E-05 6