Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519825
BTK
0.882 0.120 X 101356176 missense variant C/G snv 1
rs1057519826
BTK
0.882 0.120 X 101356177 missense variant A/T snv 1
rs104893829
VHL
0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 2
rs5030828
VHL
3 10142101 missense variant T/C snv 1
rs5030809
VHL
0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 3
rs28940297
VHL
0.882 0.240 3 10149811 missense variant T/C;G snv 1
rs5030821
VHL
0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 3
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 1
rs1057519804
AKT1
1.000 0.040 14 104776711 missense variant G/T snv 1
rs1565400045
ATM
11 108259050 frameshift variant A/- del 1
rs1565486028
ATM
11 108307917 frameshift variant -/G delins 1
rs1805076
PPP2R1B
0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03 1
rs104894310
SDHD ; TIMM8B
1.000 0.040 11 112086921 stop gained G/A snv 1
rs80338844
SDHD
0.776 0.280 11 112088939 missense variant C/T snv 2.0E-05 1.4E-05 7
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv 8
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 7
rs397507546
PTPN11
0.790 0.360 12 112489084 missense variant G/A;C;T snv 6
rs876658355
APC
0.925 0.120 5 112835073 stop gained C/A;G;T snv 3
rs878853419
APC
1.000 0.120 5 112835073 stop gained CC/AT mnv 1
rs876659517
APC
5 112835080 stop gained C/T snv 1
rs121913333
APC
0.882 0.120 5 112838220 stop gained C/A;T snv 4
rs121913331
APC
0.851 0.120 5 112838934 stop gained C/A;T snv 8.0E-06 5
rs1801155
APC
0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 10
rs1057519843
APC
5 112839522 frameshift variant AAGATTGGAAC/- del 1
rs1057519844
APC
5 112839522 frameshift variant AAGATTGGAACTAGGTCAGC/- del 1