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: 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: rs121913364
rs121913364
BRAF
14 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.800 1.000 4 2006 2016
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
dbSNP: rs104894360
rs104894360
KRAS
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.710 1.000 7 2006 2008
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.810 1.000 18 2006 2018
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: 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: rs869025608
rs869025608
MAP2K1
9 0.763 0.400 15 66435117 missense variant G/C;T snv 0.700 1.000 1 2008 2008
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: rs121913378
rs121913378
BRAF
6 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 0
dbSNP: rs180177040
rs180177040
BRAF
9 0.790 0.360 7 140754187 missense variant T/C;G snv 0.800 1.000 12 2006 2014
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: rs397507483
rs397507483
BRAF
13 0.790 0.400 7 140753348 missense variant C/A;T snv 0.800 1.000 4 2006 2009
dbSNP: rs387906660
rs387906660
BRAF
7 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 0
dbSNP: rs397507478
rs397507478
BRAF
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs727504317
rs727504317
MAP2K1
6 0.807 0.320 15 66435145 missense variant G/A snv 0.700 1.000 5 2007 2014
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: rs387906661
rs387906661
BRAF
6 0.807 0.280 7 140801551 missense variant T/G snv 0.800 1.000 3 2006 2009
dbSNP: rs397507466
rs397507466
BRAF
6 0.807 0.280 7 140801537 missense variant T/A;C;G snv 4.0E-06 0.810 1.000 2 2009 2014
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: rs121908596
rs121908596
MAP2K1
7 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2008 2008
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: rs104894365
rs104894365
KRAS
3 0.827 0.320 12 25245345 missense variant C/T snv 0.700 1.000 6 2006 2011
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