Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs651007 0.851 0.160 9 133278431 upstream gene variant T/A;C snv 22
rs687621
ABO
0.851 0.240 9 133261662 intron variant G/A;C snv 18
rs687289
ABO
1.000 0.120 9 133261703 intron variant A/G snv 15
rs1063856
VWF
0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 14
rs8176719
ABO
0.925 0.120 9 133257521 frameshift variant -/C ins 0.37 0.35 6
rs10102164
RP1
8 54509054 upstream gene variant G/A snv 0.19 4
rs9271597 0.925 0.080 6 32623514 upstream gene variant T/A snv 0.39 3
rs9390460
STXBP5
6 147373198 intron variant T/C snv 0.51 3
rs548630 5 73110832 intergenic variant A/C;T snv 2
rs9616897 22 50644690 intergenic variant C/A;G snv 2
rs35458154
KIRREL3 ; ST3GAL4
11 126426930 intron variant G/A snv 1.3E-02 2
rs6708166
LBH
2 30303914 intron variant G/A snv 0.32 2
rs1869365
RAB5C
17 42141847 intron variant T/C snv 0.40 2
rs4276643
SCARA5
8 27946082 intron variant C/T snv 0.64 2
rs1070073
STAB2
12 103606541 intron variant T/G snv 0.71 2
rs4981022
STAB2 ; NT5DC3
12 103756096 intron variant G/A snv 0.69 2
rs9390461
STXBP5
6 147380081 intron variant A/G snv 0.55 2
rs4904820
TC2N
14 91852591 intron variant G/A snv 0.53 2
rs11064010
VWF
12 6050980 intron variant T/A;C snv 2
rs2238109
VWF
12 6044801 intron variant T/A snv 0.40 2
rs11793768 9 133241275 regulatory region variant G/A snv 8.0E-02 1
rs137631 22 39321701 upstream gene variant T/C snv 0.92 1
rs551924 9 133306143 downstream gene variant G/A;C snv 1
rs574237 9 133303338 downstream gene variant G/A snv 0.53 1
rs78490142 9 133238613 intergenic variant T/C snv 1.1E-02 1