Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39 84
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs855791
TMPRSS6
0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 38
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs72661131
MBL2
0.742 0.480 10 52771739 upstream gene variant A/G snv 7.6E-04 15
rs9399137
HBS1L
0.851 0.320 6 135097880 intron variant T/C snv 0.20 13
rs104894809
GATA1
0.790 0.120 X 48792371 missense variant G/A snv 9.5E-06 9
rs121912748
SLC4A1
0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 9
rs33950507
HBB
0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 8
rs766432
BCL11A
0.925 0.080 2 60492835 intron variant C/A snv 0.80 6
rs766814208
ENTPD1-AS1 ; ENTPD1
0.851 0.120 10 95823259 synonymous variant C/T snv 1.6E-05 2.8E-05 5
rs1283391088
HBA1
0.882 0.120 16 176755 synonymous variant C/T snv 1.4E-05 4
rs186590045
AHSP
16 31528549 missense variant T/G snv 1.0E-04 3.5E-05 1
rs387906544
HBA1
16 177072 missense variant C/G snv 1
rs41467944
HBA2
16 172991 missense variant G/A snv 1
rs368698783
HBG1
11 5249833 5 prime UTR variant C/T snv 0.15 1
rs3760053
LOC107983982 ; HBM
16 161244 intron variant T/C;G snv 1