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: rs199907548
rs199907548
CDKN2A
5 0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs2518720
rs2518720
CDKN2A
2 0.925 0.080 9 21978980 intron variant C/T snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
12 0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs3731249
rs3731249
CDKN2A
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs4074785
rs4074785
CDKN2A
1 1.000 0.080 9 21981584 intron variant G/A snv 0.12 0.010 1.000 1 2014 2014