Disease: Kidney Neoplasm
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121434629
PMS2
0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 12
rs45580035
BRCA2
0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 8
rs5030824
VHL
0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 5
rs587779826
ATM
0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 5
rs869312757
BAP1
0.925 0.120 3 52405163 stop gained G/A;C snv 3