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: rs755927351
rs755927351
CDKN2A
1 1.000 0.040 9 21970968 missense variant G/A snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs758389471
rs758389471
CDKN2A
3 0.882 0.080 9 21971160 missense variant C/G;T snv 4.7E-06; 4.7E-06 0.010 1.000 1 2003 2003
dbSNP: rs878853645
rs878853645
CDKN2A
1 1.000 0.040 9 21971176 missense variant C/G snv 0.010 1.000 1 2001 2001
dbSNP: rs36204594
rs36204594
CDKN2A
2 1.000 0.040 9 21971180 missense variant G/A;T snv 0.700 0
dbSNP: rs876658220
rs876658220
CDKN2A
2 1.000 0.040 9 21971147 frameshift variant T/- delins 0.010 1.000 1 2015 2015
dbSNP: rs876658511
rs876658511
CDKN2A
2 1.000 0.040 9 21971147 frameshift variant TGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACT/- delins 0.010 1.000 1 2010 2010
dbSNP: rs387906410
rs387906410
CDKN2A
4 0.882 0.080 9 21971019 missense variant GC/AG mnv 0.010 1.000 1 2007 2007