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 0.800 1.000 0 1994 2009
dbSNP: rs104894095
rs104894095
CDKN2A
3 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.800 1.000 0 1994 2009
dbSNP: rs104894097
rs104894097
CDKN2A
7 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.800 1.000 0 1994 2009
dbSNP: rs104894098
rs104894098
CDKN2A
4 0.851 0.200 9 21970982 missense variant A/T snv 0.800 1.000 0 1994 2009
dbSNP: rs104894099
rs104894099
CDKN2A
4 0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06 0.800 1.000 0 1994 2009
dbSNP: rs113798404
rs113798404
CDKN2A
1 0.925 0.080 9 21970995 missense variant C/G;T snv 0.800 0
dbSNP: rs137854597
rs137854597
CDKN2A
1 1.000 9 21971094 missense variant C/T snv 4.3E-06 0.800 1.000 0 1994 2009
dbSNP: rs137854599
rs137854599
CDKN2A
2 0.882 0.080 9 21971093 missense variant C/G;T snv 0.800 1.000 0 1994 2009
dbSNP: rs878853647
rs878853647
CDKN2A
3 0.882 0.120 9 21971099 missense variant C/G;T snv 0.800 1.000 0 1994 2009
dbSNP: rs104894109
rs104894109
CDKN2A
3 0.925 0.120 9 21971192 missense variant C/A;T snv 0.700 0
dbSNP: rs121913388
rs121913388
CDKN2A
2 0.925 0.040 9 21971121 stop gained G/A;C snv 4.4E-06 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 0
dbSNP: rs387906410
rs387906410
CDKN2A
2 0.882 0.080 9 21971019 missense variant GC/AG mnv 0.700 0
dbSNP: rs587776716
rs587776716
CDKN2A
2 0.925 0.160 9 21971115 frameshift variant CGGGTCGGGTGAGAGTGGC/- del 0.700 0
dbSNP: rs587780668
rs587780668
CDKN2A
3 0.925 0.120 9 21974796 start lost GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC delins 1.5E-04 0.700 0