Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1732778 0.882 0.080 12 113019120 upstream gene variant G/A snv 0.22 5
rs876538 1 159705927 upstream gene variant T/A;C snv 2
rs2808635 1 159724419 intergenic variant G/C;T snv 1
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1554785242
ADAMTS13
0.882 0.160 9 133426240 missense variant G/T snv 8
rs1554791280
ADAMTS13
0.882 0.160 9 133442718 missense variant T/C snv 8
rs11575933
ADAMTS13
0.925 0.080 9 133436943 missense variant C/T snv 5.8E-03 2.3E-03 3
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 12
rs5743507
BPI
1.000 20 38310650 splice region variant G/C snv 9.4E-02 8.6E-02 2
rs2227288
CD320
1.000 0.040 19 8302641 intron variant G/C;T snv 0.12 0.14 2
rs2229291
CPT2
0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 8
rs1567608853
CYBA
0.925 0.160 16 88646212 non coding transcript exon variant G/C snv 6
rs12939622
DDX52
1.000 0.040 17 37611503 3 prime UTR variant G/A snv 0.42 2
rs1187636039
EPHA3
0.925 0.120 3 89341043 missense variant C/A snv 5
rs755789256
EXOC1
4 55868434 missense variant G/A snv 2.8E-05 1.3E-04 1
rs3832879
FGF23
12 4372733 non coding transcript exon variant -/A;G ins 4.0E-06; 0.12; 4.0E-06; 4.0E-06 0.10 2
rs7849782
GRIN3A
0.925 0.160 9 101664982 intron variant C/A;G;T snv 3
rs62641689
HCN4
15 73323818 missense variant C/A;T snv 3.2E-03 2
rs41550816
HLA-B ; HLA-C
6 31271178 missense variant C/T snv 1
rs1057518886
HMBS
11 119090043 frameshift variant C/- delins 5
rs2227956
HSPA1L
0.752 0.400 6 31810495 missense variant G/A;C;T snv 0.87 12
rs2069705
IFNG-AS1 ; IFNG
0.695 0.440 12 68161231 intron variant G/A;C snv 19
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 119
rs3811047
IL37
0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 10
rs1800795
IL6-AS1 ; IL6 ; STEAP1B
0.494 0.840 7 22727026 intron variant C/G snv 0.71 140