Gene: CDKN2A ×
Source: BEFREE ×
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: rs104894098
rs104894098
CDKN2A
2 0.851 0.200 9 21970982 missense variant A/T snv 0.710 1.000 1 1995 2013
dbSNP: rs878853647
rs878853647
CDKN2A
2 0.882 0.120 9 21971099 missense variant C/G;T snv 0.710 1.000 1 1994 2013
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
2 0.925 0.120 9 21974761 missense variant C/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913384
rs121913384
CDKN2A
1 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