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: 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
dbSNP: rs1563888944
rs1563888944
CDKN2A
1 1.000 0.120 9 21970998 frameshift variant -/TC delins 0.700 0
dbSNP: rs1563889847
rs1563889847
CDKN2A
1 1.000 0.120 9 21971161 frameshift variant -/T delins 0.700 0
dbSNP: rs398123152
rs398123152
CDKN2A
2 1.000 0.120 9 21974721 frameshift variant -/C delins 0.700 0
dbSNP: rs786204195
rs786204195
CDKN2A
4 0.851 0.200 9 21974686 missense variant G/A;T snv 0.700 0
dbSNP: rs876658534
rs876658534
CDKN2A
3 0.925 0.120 9 21971156 missense variant GC/AA mnv 0.700 0
dbSNP: rs876660436
rs876660436
CDKN2A
2 1.000 0.120 9 21971025 missense variant G/C;T snv 0.700 0
dbSNP: rs878853644
rs878853644
CDKN2A
1 1.000 0.120 9 21974677 splice donor variant C/- delins 0.700 0
dbSNP: rs587782206
rs587782206
CDKN2A
2 1.000 0.120 9 21974778 frameshift variant CCAG/- delins 0.700 1.000 1 2015 2015
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
dbSNP: rs1131691186
rs1131691186
CDKN2A
3 0.925 0.120 9 21974761 missense variant C/A;T snv 0.010 1.000 1 2007 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: rs759763964
rs759763964
CDKN2A
2 0.925 0.120 9 21971142 missense variant C/G;T snv 1.4E-05 0.010 1.000 1 2013 2013
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 2001 2001
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: 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