Source: ALL
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: rs1372399305
rs1372399305
ACAN
1 1.000 0.160 15 88847281 missense variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs180177034
rs180177034
BRAF
3 0.882 0.200 7 140801536 missense variant C/G snv 0.700 1.000 5 2006 2011
dbSNP: rs180177036
rs180177036
BRAF
2 0.925 0.200 7 140778053 missense variant C/A;G snv 0.700 1.000 5 2006 2008
dbSNP: rs121913348
rs121913348
BRAF
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 4 2003 2008
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.700 1.000 4 2007 2016
dbSNP: rs121913369
rs121913369
BRAF
12 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: rs397507483
rs397507483
BRAF
13 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 1.000 4 2006 2009
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: rs387906660
rs387906660
BRAF
7 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 1.000 2 2009 2014
dbSNP: rs397507469
rs397507469
BRAF
3 0.882 0.200 7 140801503 missense variant G/T snv 0.700 1.000 1 2007 2007
dbSNP: rs397507477
rs397507477
BRAF
2 1.000 0.160 7 140777995 missense variant G/A snv 0.700 0
dbSNP: rs397509343
rs397509343
BRAF
1 1.000 0.160 7 140801531 missense variant A/C snv 0.700 0
dbSNP: rs397516891
rs397516891
BRAF
1 1.000 0.160 7 140781599 missense variant G/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: rs397516904
rs397516904
BRAF
2 0.925 0.200 7 140801487 missense variant T/C;G snv 0.700 0
dbSNP: rs397516905
rs397516905
BRAF
1 1.000 0.160 7 140801479 missense variant 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: rs397517076
rs397517076
CBL
3 0.925 0.160 11 119278165 splice acceptor variant G/C;T snv 0.700 1.000 6 2009 2015
dbSNP: rs727504426
rs727504426
CBL
3 0.882 0.320 11 119278508 splice acceptor variant A/G snv 0.700 1.000 4 2009 2012
dbSNP: rs727504504
rs727504504
CBL
1 1.000 0.160 11 119278169 missense variant C/A snv 0.700 1.000 3 2009 2010
dbSNP: rs397517077
rs397517077
CBL
10 0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 0.700 1.000 1 2010 2010
dbSNP: rs867983497
rs867983497
COMP
1 1.000 0.160 19 18785986 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1441638629
rs1441638629
CSHL1 ; GH1
2 0.925 0.200 17 63918773 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2012 2012