Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 92
rs3918242
MMP9
0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs8179090
TIMP2
0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 12
rs387907272
MYD88
0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 73
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 99
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs1131691041
TP53
17 7676271 frameshift variant -/A delins 3
rs1178981336
C9orf43
1.000 0.040 9 113424228 frameshift variant -/G delins 7.0E-06 2
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06 19
rs1801320
RAD51 ; RAD51-AS1
0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 15
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs4898
TIMP1 ; SYN1 ; MIR4769
0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 25
rs927698341
RUNX1T1
0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 10
rs767232094
MMP2
1.000 0.040 16 55484157 synonymous variant C/T snv 8.0E-06 2
rs72661120
TP53
17 7673717 synonymous variant T/C snv 2.7E-04 7.0E-05 1
rs193303018
ND2 ; ND1 ; TRNL1
1.000 0.200 MT 3242 non coding transcript exon variant G/A snv 2
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96