Gene: CDKN2A ×
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: rs104894094
rs104894094
CDKN2A
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.800 1.000 10 1999 2016
dbSNP: rs104894097
rs104894097
CDKN2A
8 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.750 1.000 5 1995 2015
dbSNP: rs1064794292
rs1064794292
CDKN2A
3 0.882 0.200 9 21974760 missense variant C/T snv 0.710 1.000 1 2009 2009
dbSNP: rs121913388
rs121913388
CDKN2A
2 0.925 0.040 9 21971121 stop gained G/A;C snv 4.4E-06 0.700 1.000 2 2011 2014
dbSNP: rs121913386
rs121913386
CDKN2A
7 0.807 0.120 9 21971018 missense variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs36204594
rs36204594
CDKN2A
2 1.000 0.040 9 21971180 missense variant G/A;T snv 0.700 0
dbSNP: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.070 1.000 7 1997 2015
dbSNP: rs104894095
rs104894095
CDKN2A
6 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.060 1.000 6 1997 2007
dbSNP: rs3731249
rs3731249
CDKN2A
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.060 0.667 6 2002 2011
dbSNP: rs104894098
rs104894098
CDKN2A
5 0.851 0.200 9 21970982 missense variant A/T snv 0.050 1.000 5 1999 2015
dbSNP: rs786204195
rs786204195
CDKN2A
4 0.851 0.200 9 21974686 missense variant G/A;T snv 0.030 0.667 3 2006 2008
dbSNP: rs104894099
rs104894099
CDKN2A
5 0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06 0.020 1.000 2 2003 2010
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.020 1.000 2 2002 2006
dbSNP: rs559848002
rs559848002
CDKN2A
3 0.925 0.120 9 21971147 missense variant T/C;G snv 4.7E-06 0.020 1.000 2 1999 2015
dbSNP: rs759763964
rs759763964
CDKN2A
2 0.925 0.120 9 21971142 missense variant C/G;T snv 1.4E-05 0.020 1.000 2 1999 2013
dbSNP: rs878853647
rs878853647
CDKN2A
4 0.882 0.120 9 21971099 missense variant C/G;T snv 0.020 1.000 2 1999 2013
dbSNP: rs1034265990
rs1034265990
CDKN2A
2 0.925 0.120 9 21971123 missense variant G/A;T snv 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs104894104
rs104894104
CDKN2A
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1131691186
rs1131691186
CDKN2A
3 0.925 0.120 9 21974761 missense variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs11552823
rs11552823
CDKN2A
1 1.000 0.040 9 21971117 missense variant G/A;C snv 4.3E-06 0.010 1.000 1 1999 1999
dbSNP: rs137854599
rs137854599
CDKN2A
4 0.882 0.080 9 21971093 missense variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1554653960
rs1554653960
CDKN2A
2 0.925 0.040 9 21971007 missense variant C/T snv 0.010 1.000 1 1997 1997
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
12 0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs34886500
rs34886500
CDKN2A
2 0.925 0.080 9 21971064 missense variant G/A;C snv 0.010 1.000 1 1997 1997
dbSNP: rs35741010
rs35741010
CDKN2A
1 1.000 0.040 9 21971055 missense variant C/T snv 4.3E-06 0.010 1.000 1 2014 2014