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: rs121434629
rs121434629
PMS2
13 0.763 0.320 7 6005918 missense variant C/A;T snv 1.6E-04; 8.1E-06 0.700 0
dbSNP: rs1555738475
rs1555738475
STK11
12 0.776 0.400 19 1220707 frameshift variant G/- delins 0.700 0
dbSNP: rs45580035
rs45580035
BRCA2
8 0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs5030824
rs5030824
VHL
9 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.700 0
dbSNP: rs587779826
rs587779826
ATM
5 0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs869312757
rs869312757
BAP1
3 0.925 0.120 3 52405163 stop gained G/A;C snv 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs149617956
rs149617956
MITF
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs199643834
rs199643834
MPRIP ; FLCN
6 0.827 0.200 17 17215000 missense variant T/C snv 1.9E-04 1.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs879255664
rs879255664
FLCN
4 0.882 0.200 17 17222517 missense variant G/A snv 0.010 1.000 1 2017 2017