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: rs1057519852
rs1057519852
CDKN2A
1 9 21971030 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913381
rs121913381
CDKN2A
3 9 21971037 missense variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913382
rs121913382
CDKN2A
1 9 21971178 stop gained C/A;T snv 4.6E-06 0.700 1.000 1 2014 2014
dbSNP: rs121913383
rs121913383
CDKN2A
1 9 21971154 stop gained C/A snv 0.700 1.000 1 2014 2014
dbSNP: rs121913384
rs121913384
CDKN2A
2 1.000 0.120 9 21971097 stop gained C/A;G snv 0.700 1.000 1 2014 2014
dbSNP: rs121913387
rs121913387
CDKN2A
6 0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-06 0.700 1.000 1 2014 2014
dbSNP: rs121913389
rs121913389
CDKN2A
1 9 21971029 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.090 0.889 9 2006 2018
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
12 0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13 0.030 1.000 3 2014 2017
dbSNP: rs3731249
rs3731249
CDKN2A
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.030 1.000 3 1998 2019
dbSNP: rs104894094
rs104894094
CDKN2A
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.010 1.000 1 2004 2004
dbSNP: rs1057519883
rs1057519883
CDKN2A
14 0.742 0.280 9 21971120 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
6 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 0.010 1.000 1 2014 2014
dbSNP: rs1277299943
rs1277299943
CDKN2A
1 9 21974817 missense variant G/C snv 1.3E-05 0.010 1.000 1 2001 2001
dbSNP: rs1289280947
rs1289280947
CDKN2A
5 0.851 0.080 9 21974571 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1377159790
rs1377159790
CDKN2A
1 9 21971203 start lost C/T snv 4.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs200429615
rs200429615
CDKN2A
1 9 21971138 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs3731217
rs3731217
CDKN2A
10 0.763 0.320 9 21984662 intron variant A/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs6413464
rs6413464
CDKN2A
2 1.000 0.040 9 21970980 missense variant C/A;G snv 1.3E-03; 4.1E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2002 2002
dbSNP: rs774904310
rs774904310
CDKN2A
3 0.925 0.080 9 21971055 frameshift variant C/- delins 0.010 1.000 1 2009 2009