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: rs104894094
rs104894094
CDKN2A
6 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.700 0
dbSNP: rs104894095
rs104894095
CDKN2A
3 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.700 1.000 16 1995 2010
dbSNP: rs104894097
rs104894097
CDKN2A
7 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.700 1.000 19 1995 2015
dbSNP: rs104894098
rs104894098
CDKN2A
4 0.851 0.200 9 21970982 missense variant A/T snv 0.700 1.000 9 1994 2013
dbSNP: rs104894099
rs104894099
CDKN2A
4 0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06 0.700 1.000 8 1998 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: rs1060501260
rs1060501260
CDKN2A
1 9 21971156 missense variant G/A;C snv 4.7E-06 0.700 1.000 3 1996 2011
dbSNP: rs1060501263
rs1060501263
CDKN2A
2 1.000 0.120 9 21971001 frameshift variant C/- delins 0.700 0
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: rs1131691187
rs1131691187
CDKN2A
2 1.000 0.120 9 21974696 frameshift variant G/- del 0.700 1.000 1 1998 1998
dbSNP: rs1131691188
rs1131691188
CDKN2A
1 9 21974782 frameshift variant -/C delins 0.700 0
dbSNP: rs121913381
rs121913381
CDKN2A
2 9 21971037 missense variant C/A;T snv 0.700 1.000 4 1998 2011
dbSNP: rs121913386
rs121913386
CDKN2A
6 0.807 0.120 9 21971018 missense variant G/A;T snv 0.700 1.000 7 1996 2011
dbSNP: rs137854599
rs137854599
CDKN2A
2 0.882 0.080 9 21971093 missense variant C/G;T snv 0.700 1.000 2 2008 2011
dbSNP: rs141798398
rs141798398
CDKN2A
2 1.000 0.120 9 21974793 stop gained G/A;T snv 0.700 0
dbSNP: rs1554653976
rs1554653976
CDKN2A
1 9 21971015 frameshift variant -/GGGC delins 0.700 0
dbSNP: rs1554654224
rs1554654224
CDKN2A
1 9 21971210 splice acceptor variant T/C snv 0.700 1.000 2 2012 2017
dbSNP: rs1554656253
rs1554656253
CDKN2A
1 9 21974696 stop gained G/A;C snv 0.700 1.000 3 1998 2007
dbSNP: rs1554659198
rs1554659198
CDKN2A ; CDKN2B-AS1
1 9 21994212 frameshift variant G/- delins 0.700 0
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 13 1999 2016
dbSNP: rs199907548
rs199907548
CDKN2A
2 0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04 0.700 1.000 14 1994 2016
dbSNP: rs34968276
rs34968276
CDKN2A
9 0.776 0.240 9 21971110 stop gained G/A;C;T snv 0.700 1.000 8 1999 2017
dbSNP: rs36204594
rs36204594
CDKN2A
1 1.000 0.040 9 21971180 missense variant G/A;T snv 0.700 0
dbSNP: rs372670098
rs372670098
CDKN2A
1 9 21971153 missense variant T/C snv 9.5E-06 2.8E-05 0.700 1.000 12 1998 2015
dbSNP: rs387906410
rs387906410
CDKN2A
2 0.882 0.080 9 21971019 missense variant GC/AG mnv 0.700 0