Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918664
rs121918664
TERT
4 0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs137852986
rs137852986
BRIP1
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.010 1.000 1 2016 2016
dbSNP: rs770965402
rs770965402
PALB2
1 1.000 0.040 16 23635068 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs786202916
rs786202916
BRCA2
1 1.000 0.040 13 32332956 missense variant C/T snv 0.010 1.000 1 2016 2016