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: rs28934573
rs28934573
TP53
24 0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06 0.800 1.000 7 1990 2016
dbSNP: rs587780073
rs587780073
TP53
17 0.708 0.400 17 7674262 missense variant T/C;G snv 0.800 1.000 7 1990 2017
dbSNP: rs764146326
rs764146326
TP53
20 0.662 0.480 17 7673779 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 7 1990 2015
dbSNP: rs879253942
rs879253942
TP53
3 0.677 0.400 17 7673826 missense variant A/G snv 0.800 1.000 7 1990 2017
dbSNP: rs483352695
rs483352695
TP53
3 0.882 0.200 17 7674227 missense variant T/A;C;G snv 0.800 1.000 6 1990 2016
dbSNP: rs863224451
rs863224451
TP53
19 0.701 0.440 17 7673796 missense variant C/A;G;T snv 0.800 1.000 6 1990 2011
dbSNP: rs985033810
rs985033810
TP53
16 0.724 0.280 17 7674232 missense variant C/A;G;T snv 0.800 1.000 6 2007 2016
dbSNP: rs121912652
rs121912652
TP53
4 0.882 0.200 17 7674191 stop gained C/A;T snv 0.800 1.000 4 1990 2014
dbSNP: rs121912662
rs121912662
TP53
2 0.925 0.120 17 7670678 missense variant A/G snv 0.800 1.000 3 1990 2017
dbSNP: rs1057519981
rs1057519981
TP53
20 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.800 1.000 1 1990 2014
dbSNP: rs28934875
rs28934875
TP53
2 0.925 0.120 17 7675200 missense variant C/G snv 0.800 1.000 0 1990 2014
dbSNP: rs375338359
rs375338359
TP53
3 0.882 0.200 17 7670684 missense variant C/G;T snv 8.0E-06 0.720 1.000 9 1998 2015
dbSNP: rs137853007
rs137853007
CHEK2
7 0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05 0.710 1.000 4 2001 2012
dbSNP: rs876659384
rs876659384
TP53
3 0.851 0.240 17 7673552 stop gained C/A snv 0.710 1.000 0 2004 2004
dbSNP: rs121912655
rs121912655
TP53
15 0.724 0.400 17 7674238 missense variant C/A;G;T snv 0.700 1.000 18 1989 2017
dbSNP: rs11540654
rs11540654
TP53
3 0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05 0.700 1.000 11 1997 2014
dbSNP: rs55863639
rs55863639
TP53
2 1.000 0.120 17 7675994 splice region variant C/A;G;T snv 0.700 1.000 11 1992 2016
dbSNP: rs730882029
rs730882029
TP53
3 0.882 0.200 17 7670685 stop gained G/A snv 0.700 1.000 11 2006 2016
dbSNP: rs397516436
rs397516436
TP53
26 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 10 1994 2012
dbSNP: rs587781525
rs587781525
TP53
20 0.689 0.480 17 7673778 missense variant T/A;C;G snv 0.700 1.000 10 1999 2015
dbSNP: rs1057519989
rs1057519989
TP53
15 0.732 0.240 17 7674233 missense variant C/A;G;T snv 0.700 1.000 9 2003 2016
dbSNP: rs112431538
rs112431538
TP53
2 1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06 0.700 1.000 9 1997 2015
dbSNP: rs397516435
rs397516435
TP53
3 0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06 0.700 1.000 9 1994 2016
dbSNP: rs864622237
rs864622237
TP53
17 0.716 0.320 17 7674263 missense variant A/C;G;T snv 0.700 1.000 9 1994 2013
dbSNP: rs876660821
rs876660821
TP53
21 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.700 1.000 9 2003 2018