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: rs104894360
rs104894360
KRAS
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs121913281
rs121913281
PIK3CA
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 0
dbSNP: rs121917901
rs121917901
ERCC6
7 0.790 0.440 10 49478437 stop gained G/A snv 7.2E-05 4.9E-05 0.700 0
dbSNP: rs121917902
rs121917902
ERCC6 ; PGBD3
7 0.790 0.440 10 49524073 stop gained G/A snv 0.700 0
dbSNP: rs1324578301
rs1324578301
NTRK2
1 1.000 0.080 9 85020233 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs17851045
rs17851045
KRAS
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs180177042
rs180177042
BRAF
8 0.807 0.280 7 140749365 missense variant A/C;T snv 0.700 0
dbSNP: rs1805076
rs1805076
PPP2R1B
7 0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03 0.700 0
dbSNP: rs2071460
rs2071460
CSNK2A3 ; GALNT18
1 1.000 0.080 11 11352722 missense variant A/G snv 0.48 0.41 0.700 0
dbSNP: rs372594677
rs372594677
EPHA3
1 1.000 0.080 3 89472571 missense variant C/A;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs373227647
rs373227647
ERCC6
7 0.790 0.440 10 49472472 splice acceptor variant T/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs376526037
rs376526037
ERCC6
8 0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs387906660
rs387906660
BRAF
7 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 0
dbSNP: rs387906661
rs387906661
BRAF
6 0.807 0.280 7 140801551 missense variant T/G snv 0.700 0
dbSNP: rs397507466
rs397507466
BRAF
6 0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs397516895
rs397516895
BRAF
5 0.827 0.280 7 140753392 missense variant A/T snv 0.700 0
dbSNP: rs540635787
rs540635787
CHEK2
4 0.851 0.200 22 28694073 missense variant G/A;C;T snv 1.7E-05 0.700 0
dbSNP: rs587782705
rs587782705
TP53
8 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.030 0.667 3 1993 2019
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.020 0.500 2 1993 2019
dbSNP: rs1019340046
rs1019340046
TP53
5 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993
dbSNP: rs587781991
rs587781991
TP53
17 0.724 0.240 17 7675208 missense variant C/A;T snv 0.010 1.000 1 1996 1996
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.100 0.900 20 1998 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.100 0.967 30 1999 2019
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.100 0.667 15 1999 2018