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: rs1554653956
rs1554653956
CDKN2A
1 1.000 0.120 9 21971004 frameshift variant CCAGGTCCACGGGCAG/- delins 0.700 1.000 11 1995 2016
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
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: rs1563902931
rs1563902931
CDKN2A ; CDKN2B-AS1
1 1.000 0.120 9 21994274 frameshift variant C/- del 0.700 1.000 3 2001 2007
dbSNP: rs730881674
rs730881674
CDKN2A
2 1.000 0.120 9 21971116 frameshift variant GTGAGAGTGGCGGGGTCGG/- delins 0.700 1.000 3 2004 2010
dbSNP: rs779306249
rs779306249
CDKN2A ; CDKN2B-AS1
1 1.000 0.120 9 21994234 frameshift variant -/C delins 1.7E-05 1.4E-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: rs1563892715
rs1563892715
CDKN2A
1 1.000 0.120 9 21974759 frameshift variant A/- del 0.700 1.000 2 2004 2007
dbSNP: rs587782083
rs587782083
CDKN2A ; CDKN2B-AS1
1 1.000 0.120 9 21994134 splice region variant C/T snv 0.700 1.000 2 2014 2015
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: rs587782206
rs587782206
CDKN2A
2 1.000 0.120 9 21974778 frameshift variant CCAG/- delins 0.700 1.000 1 2015 2015
dbSNP: rs1060501262
rs1060501262
CDKN2A ; CDKN2B-AS1
1 1.000 0.120 9 21994138 splice donor variant C/T snv 0.700 0
dbSNP: rs1060501263
rs1060501263
CDKN2A
2 1.000 0.120 9 21971001 frameshift variant C/- delins 0.700 0
dbSNP: rs1060501265
rs1060501265
CDKN2A
1 1.000 0.120 9 21974676 splice donor variant A/G snv 0.700 0
dbSNP: rs1554653915
rs1554653915
CDKN2A
1 1.000 0.120 9 21970966 splice donor variant GCGCAGGTACCGT/CGCATC delins 0.700 0
dbSNP: rs1554654052
rs1554654052
CDKN2A
1 1.000 0.120 9 21971076 frameshift variant C/- delins 0.700 0
dbSNP: rs1554656624
rs1554656624
CDKN2A
1 1.000 0.120 9 21974798 frameshift variant C/- del 0.700 0