Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10864728
GALNT2
1 230169168 intron variant A/G snv 0.50 3
rs11599750
CPN1
10 100045685 intron variant C/T snv 0.40 3
rs12116643
CFHR5
1 197004053 intron variant T/C snv 0.19 3
rs149037075
ABO
9 133255469 3 prime UTR variant CTGT/- delins 0.15 3
rs17368582
MMP12
11 102867344 synonymous variant T/C snv 9.9E-02 9.1E-02 3
rs191448950
USP24
1 55119171 intron variant G/A snv 6.4E-03 3
rs2425068
CPNE1
20 35626801 splice acceptor variant T/C snv 6.2E-02 4.7E-02 3
rs2668196
BCHE
3 165784921 intron variant A/T snv 0.75 3
rs28381684
MMP12
11 102866461 intron variant A/T snv 0.10 9.3E-02 3
rs35004449
ITIH4
3 52818881 3 prime UTR variant G/T snv 0.27 3
rs4253417
F11
4 186277851 intron variant T/C;G snv 3
rs4499344
PDCD5
19 32582525 intron variant G/A snv 0.46 3
rs4619875
TIGD4 ; ARFIP1
4 152779978 5 prime UTR variant C/G;T snv 3
rs488703
F7
13 113116562 intron variant G/A snv 0.14 3
rs492488
ABO
9 133269548 intron variant A/C;G;T snv 3
rs55714927
ASGR1
17 7176997 synonymous variant C/T snv 0.20 0.16 3
rs6431630
UGT1A5 ; UGT1A4 ; UGT1A6 ; UGT1A8 ; UGT1A1 ; UGT1A10 ; UGT1A7 ; UGT1A3 ; UGT1A9
2 233768740 intron variant G/A snv 0.18 3
rs68055275
ST3GAL4
11 126369248 intron variant -/T;TT delins 3
rs708686
FUT6
19 5840608 upstream gene variant C/T snv 0.46 3
rs7260330 19 44932959 downstream gene variant A/G snv 0.39 3
rs75759936 4 78698045 intergenic variant C/A snv 5.0E-03 3
rs7897379
REEP3
10 63541965 intron variant T/C snv 0.43 3
rs8176643
ABO
9 133274294 intron variant C/- del 3
rs8178824
APOH
17 66228657 intron variant C/T snv 2.3E-02 3
rs854674
LOC107985068
17 36032936 regulatory region variant T/C snv 0.57 3