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: rs104894094
rs104894094
CDKN2A
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.800 1.000 11 1994 2016
dbSNP: rs104894097
rs104894097
CDKN2A
8 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.700 1.000 13 1998 2016
dbSNP: rs104894098
rs104894098
CDKN2A
5 0.851 0.200 9 21970982 missense variant A/T snv 0.700 1.000 12 1994 2015
dbSNP: rs104894099
rs104894099
CDKN2A
5 0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06 0.700 1.000 10 1998 2016
dbSNP: rs45476696
rs45476696
CDKN2A
3 0.925 0.200 9 21970902 stop gained C/A;T snv 0.700 1.000 5 1998 2011
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 3 1999 2016
dbSNP: rs730881675
rs730881675
CDKN2A
3 0.925 0.200 9 21971106 frameshift variant TCGTGCACGGGTCG/- delins 0.700 1.000 2 1996 2002
dbSNP: rs587776716
rs587776716
CDKN2A
2 0.925 0.160 9 21971115 frameshift variant CGGGTCGGGTGAGAGTGGC/- del 0.700 0
dbSNP: rs749714198
rs749714198
CDKN2A
4 0.882 0.200 9 21971100 missense variant G/A snv 8.6E-06 7.0E-06 0.700 0