Gene: CDKN2A ×
Source: CLINVAR ×
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: rs730881674
rs730881674
CDKN2A
2 1.000 0.120 9 21971116 frameshift variant GTGAGAGTGGCGGGGTCGG/- delins 0.700 1.000 15 1995 2015
dbSNP: rs768966657
rs768966657
CDKN2A
2 1.000 0.120 9 21971021 inframe insertion -/ACG delins 1.3E-05 0.700 1.000 14 1996 2016
dbSNP: rs587778189
rs587778189
CDKN2A
1 1.000 9 21974679 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.700 1.000 8 2002 2013
dbSNP: rs864622263
rs864622263
CDKN2A
2 1.000 0.120 9 21974781 missense variant A/C;T snv 0.700 1.000 6 1998 2011
dbSNP: rs730881673
rs730881673
CDKN2A
2 1.000 0.120 9 21974696 stop gained -/T;TT delins 4.0E-06 0.700 1.000 5 1998 2014
dbSNP: rs876658556
rs876658556
CDKN2A
2 1.000 0.120 9 21974784 stop gained C/T snv 0.700 1.000 5 1996 2008
dbSNP: rs864622636
rs864622636
CDKN2A
2 1.000 0.120 9 21974680 stop gained G/A;T snv 0.700 1.000 4 1996 2015
dbSNP: rs876660436
rs876660436
CDKN2A
2 1.000 0.120 9 21971025 missense variant G/C;T snv 0.700 1.000 3 1999 2010
dbSNP: rs587782206
rs587782206
CDKN2A
2 1.000 0.120 9 21974778 frameshift variant CCAG/- delins 0.700 1.000 2 1997 2010
dbSNP: rs1131691187
rs1131691187
CDKN2A
2 1.000 0.120 9 21974696 frameshift variant G/- del 0.700 1.000 1 1998 1998
dbSNP: rs1060501263
rs1060501263
CDKN2A
2 1.000 0.120 9 21971001 frameshift variant C/- delins 0.700 0
dbSNP: rs141798398
rs141798398
CDKN2A
2 1.000 0.120 9 21974793 stop gained G/A;T snv 0.700 0
dbSNP: rs36204594
rs36204594
CDKN2A
1 1.000 0.040 9 21971180 missense variant G/A;T snv 0.700 0
dbSNP: rs398123152
rs398123152
CDKN2A
2 1.000 0.120 9 21974721 frameshift variant -/C delins 0.700 0
dbSNP: rs876658220
rs876658220
CDKN2A
1 1.000 0.040 9 21971147 frameshift variant T/- delins 0.700 0
dbSNP: rs876658511
rs876658511
CDKN2A
1 1.000 0.040 9 21971147 frameshift variant TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- delins 0.700 0
dbSNP: rs878853650
rs878853650
CDKN2A
2 0.925 0.120 9 21974733 missense variant A/G snv 0.700 1.000 15 1995 2010
dbSNP: rs587780668
rs587780668
CDKN2A
3 0.925 0.120 9 21974796 start lost GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC delins 1.5E-04 0.700 1.000 13 1995 2015
dbSNP: rs559848002
rs559848002
CDKN2A
2 0.925 0.120 9 21971147 missense variant T/C;G snv 4.7E-06 0.700 1.000 12 1994 2011
dbSNP: rs104894109
rs104894109
CDKN2A
3 0.925 0.120 9 21971192 missense variant C/A;T snv 0.700 1.000 9 1998 2011
dbSNP: rs876658534
rs876658534
CDKN2A
2 0.925 0.120 9 21971156 missense variant GC/AA mnv 0.700 1.000 9 1998 2011
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: rs730881675
rs730881675
CDKN2A
3 0.925 0.200 9 21971106 frameshift variant TCGTGCACGGGTCG/- delins 0.700 1.000 7 1994 2014
dbSNP: rs1131691186
rs1131691186
CDKN2A
1 0.925 0.120 9 21974761 missense variant C/A;T snv 0.700 1.000 5 2002 2014
dbSNP: rs754806883
rs754806883
CDKN2A
2 0.925 0.160 9 21971063 missense variant C/A;G;T snv 4.3E-06; 8.5E-06 0.700 0