Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 7
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv 6
rs397507546
PTPN11
0.790 0.360 12 112489084 missense variant G/A;C;T snv 6
rs1057520039
STK11
0.882 0.200 19 1207169 stop gained C/G;T snv 2
rs1057519791
FGFR2
1.000 0.080 10 121518810 missense variant G/C snv 1
rs121918499
FGFR2
0.925 0.160 10 121520048 missense variant C/A;G snv 2
rs764449808
STK11
1.000 0.080 19 1218494 missense variant A/G snv 1.2E-05 3.5E-05 1
rs730881972
STK11
1.000 0.080 19 1220395 missense variant G/C;T snv 2
rs763733111
PPP6C
0.925 0.120 9 125149801 missense variant G/A snv 4.0E-06 2
rs121913376
BRAF
0.925 0.080 7 140781597 missense variant C/A;T snv 1
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs121913357
BRAF
0.742 0.320 7 140781603 stop gained C/A;G;T snv 11
rs121913351
BRAF
0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 9
rs1057519896
FBXW7
0.742 0.320 4 152326136 missense variant C/A;T snv 12
rs149680468
FBXW7
0.742 0.320 4 152326137 missense variant G/A;C;T snv 12
rs866987936
FBXW7
0.752 0.240 4 152326214 missense variant C/A;G;T snv 12
rs747241612
FBXW7
0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 12
rs1057519895
FBXW7
0.724 0.240 4 152328232 missense variant C/A;G;T snv 14
rs867384286
FBXW7
0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 14
rs34192549
EPHA2
1.000 0.080 1 16137994 missense variant C/G;T snv 2.5E-02 1
rs144594252
DDR2
0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05 1
rs578015216
DDR2
1.000 0.080 1 162759840 missense variant T/C;G snv 2.8E-05 1
rs376303676
DDR2
1.000 0.080 1 162759881 missense variant G/A;T snv 8.0E-06 1
rs1057519789
DDR2
1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-06 1