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: rs397507480
rs397507480
BRAF
1 1.000 0.160 7 140754233 missense variant A/C snv 0.700 1.000 1 2007 2007
dbSNP: rs397516893
rs397516893
BRAF
3 0.925 0.160 7 140778048 missense variant A/C snv 0.700 1.000 1 2007 2007
dbSNP: rs869025606
rs869025606
BRAF
1 1.000 0.160 7 140781609 missense variant A/C snv 0.800 1.000 0 2006 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: rs397516790
rs397516790
MAP2K1
2 0.925 0.200 15 66435115 missense variant A/C;G snv 0.700 1.000 2 2008 2010
dbSNP: rs397516903
rs397516903
BRAF
2 0.925 0.200 7 140801533 missense variant A/C;G snv 0.700 0
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: rs113488022
rs113488022
BRAF
22 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.710 1.000 0 2011 2011
dbSNP: rs180177042
rs180177042
BRAF
7 0.807 0.280 7 140749365 missense variant A/C;T snv 0.800 1.000 4 2006 2014
dbSNP: rs121913341
rs121913341
BRAF
3 0.851 0.280 7 140753350 missense variant A/C;T snv 0.800 1.000 3 2006 2012
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: rs397517042
rs397517042
KRAS
2 0.925 0.200 12 25209896 missense variant A/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs121913337
rs121913337
BRAF
2 0.925 0.200 7 140753353 missense variant A/C;T snv 0.700 0
dbSNP: rs121908595
rs121908595
MAP2K1
8 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.720 1.000 13 2006 2018
dbSNP: rs397507473
rs397507473
BRAF
1 1.000 0.160 7 140781605 missense variant A/G snv 4.0E-06 0.800 1.000 5 2006 2009
dbSNP: rs397507475
rs397507475
BRAF
1 0.925 0.200 7 140778054 missense variant A/G snv 0.710 1.000 3 2007 2012
dbSNP: rs794729219
rs794729219
BRAF
2 0.882 0.240 7 140753352 missense variant A/G snv 0.700 1.000 2 2006 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: rs397516895
rs397516895
BRAF
5 0.827 0.280 7 140753392 missense variant A/T snv 0.700 1.000 1 2007 2007
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: rs397507478
rs397507478
BRAF
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs180177036
rs180177036
BRAF
2 0.925 0.200 7 140778053 missense variant C/A;G snv 0.800 1.000 5 2006 2014
dbSNP: rs397516792
rs397516792
MAP2K1
6 0.827 0.280 15 66436825 missense variant C/A;G;T snv 0.700 1.000 6 2007 2017
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: rs121913355
rs121913355
BRAF
32 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 2 2006 2009