Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 88
rs1353702185
MDM2
0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs3775291
TLR3
0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 51
rs58542926
TM6SF2
0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 42
rs1884444
IL23R ; C1orf141
0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 34
rs11556218
IL16
0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 27
rs2230926
TNFAIP3
0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 27
rs641738
LOC112268246 ; TMC4 ; MBOAT7
0.689 0.320 19 54173068 missense variant T/A;C;G snv 22
rs7813
GEMIN4
0.689 0.360 17 744946 missense variant G/A;C snv 0.63 22
rs35761398
CNR2
0.701 0.520 1 23875429 missense variant TT/CC mnv 19
rs3775290
TLR3
0.742 0.280 4 186083063 missense variant C/A;T snv 0.30 15
rs2296651
SLC10A1
0.732 0.240 14 69778476 missense variant G/A snv 6.3E-03 2.5E-03 13
rs422951
NOTCH4
0.807 0.280 6 32220606 missense variant T/C snv 0.40 0.40 8
rs12614
CYP21A2 ; CFB
0.851 0.160 6 31946402 missense variant C/G;T snv 4.1E-06; 0.12 5
rs117648444
IFNL4
0.882 0.160 19 39247938 missense variant G/A snv 0.25 8.1E-02 3
rs76844316
BTLA
1.000 0.080 3 112469762 missense variant T/G snv 2.4E-02 2.2E-02 1
rs652888
EHMT2-AS1 ; EHMT2 ; LOC107986588 ; CYP21A2
0.776 0.480 6 31883457 non coding transcript exon variant A/G snv 0.18 0.20 10
rs3106796
COL3A1 ; LOC105373791
0.882 0.160 2 188985047 non coding transcript exon variant A/G snv 0.35 3
rs2736098
TERT
0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs378352
HLA-DOA
0.925 0.200 6 33007157 synonymous variant G/A;C snv 0.20 2