Source: CLINVAR ×
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: rs104894366
rs104894366
KRAS
9 0.776 0.400 12 25245284 missense variant G/A;C snv 0.700 1.000 4 1993 2011
dbSNP: rs121913348
rs121913348
BRAF
16 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 4 2003 2008
dbSNP: rs121913369
rs121913369
BRAF
8 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2004 2012
dbSNP: rs180177038
rs180177038
BRAF
4 0.851 0.200 7 140778007 missense variant C/G;T snv 0.700 1.000 4 2006 2012
dbSNP: rs727503108
rs727503108
KRAS
3 0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06 0.700 1.000 4 2006 2013
dbSNP: rs727504370
rs727504370
MAP2K2
2 0.925 0.200 19 4110558 missense variant T/C snv 0.700 1.000 4 2007 2018
dbSNP: rs104894359
rs104894359
KRAS
4 0.851 0.200 12 25227346 missense variant C/G;T snv 0.700 1.000 3 2006 2011
dbSNP: rs180177041
rs180177041
BRAF
5 0.851 0.240 7 140777006 missense variant C/G snv 0.700 1.000 3 2006 2008
dbSNP: rs397507484
rs397507484
BRAF
10 0.752 0.480 7 140753333 missense variant T/A;C;G snv 0.700 1.000 3 2009 2014
dbSNP: rs727503109
rs727503109
KRAS
16 0.752 0.320 12 25245277 missense variant T/C snv 0.700 1.000 3 1993 2009
dbSNP: rs387907205
rs387907205
KRAS
2 0.925 0.160 12 25227313 missense variant A/C;G snv 0.700 1.000 2 2012 2013
dbSNP: rs397507465
rs397507465
BRAF
1 1.000 0.160 7 140801542 missense variant T/G snv 0.700 1.000 2 2007 2008
dbSNP: rs397516790
rs397516790
MAP2K1
2 0.925 0.200 15 66435115 missense variant A/C;G snv 0.700 1.000 2 2008 2010
dbSNP: rs397516904
rs397516904
BRAF
2 0.925 0.200 7 140801487 missense variant T/C;G snv 0.700 1.000 2 2007 2008
dbSNP: rs794729219
rs794729219
BRAF
2 0.882 0.240 7 140753352 missense variant A/G snv 0.700 1.000 2 2006 2008
dbSNP: rs121434497
rs121434497
MAP2K2
2 0.925 0.160 19 4117552 missense variant A/C;T snv 0.700 1.000 1 2006 2006
dbSNP: rs121434498
rs121434498
MAP2K2
6 0.807 0.280 19 4117553 missense variant A/C;G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs121434499
rs121434499
MAP2K2
2 0.925 0.160 19 4110559 missense variant A/G snv 0.700 1.000 1 2008 2008
dbSNP: rs121908594
rs121908594
MAP2K1
2 0.925 0.160 15 66435104 missense variant T/C snv 0.700 1.000 1 2006 2006
dbSNP: rs121908596
rs121908596
MAP2K1
7 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs267607230
rs267607230
MAP2K2
2 0.925 0.160 19 4110576 missense variant G/A;C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs397507469
rs397507469
BRAF
3 0.882 0.200 7 140801503 missense variant G/T snv 0.700 1.000 1 2007 2007
dbSNP: rs397507480
rs397507480
BRAF
1 1.000 0.160 7 140754233 missense variant A/C snv 0.700 1.000 1 2007 2007
dbSNP: rs397516789
rs397516789
MAP2K1
1 1.000 0.160 15 66435070 missense variant C/T snv 0.700 1.000 1 2009 2009
dbSNP: rs397516893
rs397516893
BRAF
3 0.925 0.160 7 140778048 missense variant A/C snv 0.700 1.000 1 2007 2007