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: rs121913337
rs121913337
BRAF
2 0.925 0.200 7 140753353 missense variant A/C;T snv 0.700 0
dbSNP: rs121913349
rs121913349
BRAF
2 0.925 0.200 7 140781618 missense variant C/G;T snv 0.700 0
dbSNP: rs121913378
rs121913378
BRAF
6 0.776 0.280 7 140753337 missense variant C/A;G;T snv 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: rs397507474
rs397507474
BRAF
1 1.000 0.160 7 140778061 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs397507478
rs397507478
BRAF
12 0.790 0.440 7 140777014 missense variant C/A snv 0.700 0
dbSNP: rs397507479
rs397507479
BRAF
1 1.000 0.160 7 140777011 missense variant C/T snv 0.700 0
dbSNP: rs397507481
rs397507481
BRAF
4 0.882 0.240 7 140754206 missense variant G/C;T snv 0.700 0
dbSNP: rs397516791
rs397516791
MAP2K1
1 1.000 0.160 15 66435221 missense variant T/G snv 0.700 0
dbSNP: rs397516892
rs397516892
BRAF
1 1.000 0.160 7 140778066 missense variant G/T snv 0.700 0
dbSNP: rs397516894
rs397516894
BRAF
1 1.000 0.160 7 140754208 missense variant G/A;C snv 0.700 0
dbSNP: rs397516903
rs397516903
BRAF
2 0.925 0.200 7 140801533 missense variant A/C;G snv 0.700 0
dbSNP: rs727502904
rs727502904
BRAF
2 0.925 0.200 7 140734763 missense variant G/A;T snv 0.700 0
dbSNP: rs727504375
rs727504375
BRAF
2 0.925 0.200 7 140778059 missense variant T/G snv 0.700 0
dbSNP: rs727504382
rs727504382
MAP2K2
2 0.925 0.200 19 4101105 missense variant C/T snv 0.700 0
dbSNP: rs730880517
rs730880517
MAP2K2
1 1.000 0.160 19 4117541 missense variant T/C snv 0.700 0
dbSNP: rs869025607
rs869025607
BRAF
1 1.000 0.160 7 140781598 inframe deletion GTT/- delins 0.700 0
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: rs121908594
rs121908594
MAP2K1
2 0.925 0.160 15 66435104 missense variant T/C snv 0.700 1.000 1 2006 2006
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: rs397516893
rs397516893
BRAF
3 0.925 0.160 7 140778048 missense variant A/C snv 0.700 1.000 1 2007 2007
dbSNP: rs397516895
rs397516895
BRAF
5 0.827 0.280 7 140753392 missense variant A/T snv 0.700 1.000 1 2007 2007
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: rs104894360
rs104894360
KRAS
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.710 1.000 7 2006 2008