Source: CURATED ×
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
16 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs180177042
rs180177042
BRAF
7 0.807 0.280 7 140749365 missense variant A/C;T snv 0.700 0
dbSNP: rs1805076
rs1805076
PPP2R1B
2 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
6 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs34424986
rs34424986
PRKN
6 0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06 0.720 0.500 0 2015 2020
dbSNP: rs8034191
rs8034191
HYKK
8 0.695 0.440 15 78513681 intron variant T/C snv 0.27 0.800 0.833 4 2008 2017
dbSNP: rs11571833
rs11571833
BRCA2
21 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.750 0.857 3 2014 2018
dbSNP: rs121913529
rs121913529
KRAS
21 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.800 0.933 3 2010 2019
dbSNP: rs1051730
rs1051730
CHRNA3
11 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.800 0.952 2 2008 2018
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
1 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.800 0.963 1 2003 2019
dbSNP: rs121913351
rs121913351
BRAF
9 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 13 2002 2014