Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 1
rs763110
FASLG
0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 1
rs2279744
MDM2
0.605 0.640 12 68808800 intron variant T/G snv 0.31 1
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs2236379
PRKCQ
0.790 0.160 10 6485181 missense variant G/A snv 0.31 0.30 1
rs11978267
IKZF1
0.763 0.240 7 50398606 intron variant A/G snv 0.25 1
rs243865
MMP2
0.600 0.640 16 55477894 intron variant C/T snv 0.19 2
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 8
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs5743708
TLR2
0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 1
rs35719940
TERT
0.925 0.160 5 1254479 missense variant C/T snv 1.2E-02 1.3E-02 2
rs762890562
DDX41
0.925 0.040 5 177515944 stop gained -/CATC delins 8.7E-05 7.0E-05 2
rs387907097
TGM6
0.925 0.120 20 2417445 missense variant T/G snv 1.5E-04 5.6E-05 2
rs771063992
DNAJC21
0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 7
rs267606708
CBL
0.925 0.040 11 119278541 missense variant G/A snv 4.0E-06 2.1E-05 1
rs376588714
FLT3
1.000 0.040 13 28018483 missense variant T/C snv 2.4E-05 1.4E-05 1
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 1
rs121913491
FLT3
1.000 0.040 13 28034204 missense variant T/C snv 2.0E-05 7.0E-06 1
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30