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: rs1060501266
rs1060501266
CDKN2A
1 1.000 0.120 9 21968347 intron variant T/C snv 7.0E-06 0.700 1.000 4 2001 2012
dbSNP: rs45476696
rs45476696
CDKN2A
3 0.925 0.200 9 21970902 stop gained C/A;T snv 0.700 1.000 8 1998 2015
dbSNP: rs864622636
rs864622636
CDKN2A
2 1.000 0.120 9 21974680 stop gained G/A;T snv 0.700 1.000 7 1996 2015
dbSNP: rs1554656411
rs1554656411
CDKN2A
1 1.000 0.120 9 21974749 stop gained C/A snv 0.700 1.000 6 2004 2017
dbSNP: rs141798398
rs141798398
CDKN2A
2 1.000 0.120 9 21974793 stop gained G/A;T snv 0.700 1.000 5 2004 2017
dbSNP: rs121913387
rs121913387
CDKN2A
6 0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-06 0.700 1.000 4 1994 2014
dbSNP: rs1287464120
rs1287464120
CDKN2A ; CDKN2B-AS1
1 1.000 0.120 9 21994235 stop gained C/A;T snv 1.7E-05 0.700 1.000 3 2001 2007
dbSNP: rs876658556
rs876658556
CDKN2A
2 1.000 0.120 9 21974784 stop gained C/T snv 0.700 1.000 3 1996 2007
dbSNP: rs730881673
rs730881673
CDKN2A
2 1.000 0.120 9 21974696 stop gained -/T;TT delins 4.0E-06 0.700 1.000 2 2004 2007
dbSNP: rs121913384
rs121913384
CDKN2A
2 1.000 0.120 9 21971097 stop gained C/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs104894097
rs104894097
CDKN2A
8 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.700 1.000 16 1995 2015
dbSNP: rs104894095
rs104894095
CDKN2A
6 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.700 1.000 12 1995 2015
dbSNP: rs749714198
rs749714198
CDKN2A
4 0.882 0.200 9 21971100 missense variant G/A snv 8.6E-06 7.0E-06 0.700 1.000 12 1994 2016
dbSNP: rs104894109
rs104894109
CDKN2A
3 0.925 0.120 9 21971192 missense variant C/A;T snv 0.700 1.000 10 1998 2014
dbSNP: rs104894099
rs104894099
CDKN2A
5 0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06 0.700 1.000 9 1998 2016
dbSNP: rs878853647
rs878853647
CDKN2A
4 0.882 0.120 9 21971099 missense variant C/G;T snv 0.710 1.000 9 1994 2013
dbSNP: rs559848002
rs559848002
CDKN2A
3 0.925 0.120 9 21971147 missense variant T/C;G snv 4.7E-06 0.700 1.000 8 1994 2012
dbSNP: rs754806883
rs754806883
CDKN2A
3 0.925 0.160 9 21971063 missense variant C/A;G;T snv 4.3E-06; 8.5E-06 0.700 1.000 8 1947 2014
dbSNP: rs878853650
rs878853650
CDKN2A
3 0.925 0.120 9 21974733 missense variant A/G snv 0.700 1.000 8 1995 2017
dbSNP: rs104894094
rs104894094
CDKN2A
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.700 1.000 7 2000 2011
dbSNP: rs104894098
rs104894098
CDKN2A
5 0.851 0.200 9 21970982 missense variant A/T snv 0.710 1.000 7 1995 2013
dbSNP: rs1064794292
rs1064794292
CDKN2A
3 0.882 0.200 9 21974760 missense variant C/T snv 0.700 1.000 7 1998 2014
dbSNP: rs864622263
rs864622263
CDKN2A
2 1.000 0.120 9 21974781 missense variant A/C;T snv 0.700 1.000 7 2004 2011
dbSNP: rs199907548
rs199907548
CDKN2A
5 0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04 0.700 1.000 4 1999 2012
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