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: rs878853647
rs878853647
CDKN2A
4 0.882 0.120 9 21971099 missense variant C/G;T snv 0.710 1.000 9 1994 2013
dbSNP: rs104894098
rs104894098
CDKN2A
5 0.851 0.200 9 21970982 missense variant A/T snv 0.710 1.000 7 1995 2013
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: rs1554653956
rs1554653956
CDKN2A
1 1.000 0.120 9 21971004 frameshift variant CCAGGTCCACGGGCAG/- delins 0.700 1.000 11 1995 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: rs587780668
rs587780668
CDKN2A
3 0.925 0.120 9 21974796 start lost GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC delins 1.5E-04 0.700 1.000 9 1995 2015
dbSNP: rs1800586
rs1800586
CDKN2A
5 0.851 0.240 9 21974861 5 prime UTR variant C/A;G;T snv 4.3E-05; 6.1E-05; 8.7E-06 0.700 1.000 8 1999 2010
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: 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: rs730881675
rs730881675
CDKN2A
3 0.925 0.200 9 21971106 frameshift variant TCGTGCACGGGTCG/- delins 0.700 1.000 8 1994 2011
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: rs1064794292
rs1064794292
CDKN2A
3 0.882 0.200 9 21974760 missense variant C/T snv 0.700 1.000 7 1998 2014
dbSNP: rs1563889584
rs1563889584
CDKN2A
1 1.000 0.120 9 21971121 frameshift variant G/- delins 0.700 1.000 7 1994 2011
dbSNP: rs768966657
rs768966657
CDKN2A
2 1.000 0.120 9 21971021 inframe insertion -/ACG delins 1.3E-05 0.700 1.000 7 1996 2016
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: 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: 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: rs1131691187
rs1131691187
CDKN2A
2 1.000 0.120 9 21974696 frameshift variant G/- del 0.700 1.000 4 2004 2016