Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555523630
rs1555523630
TP53
1.000 0.120 17 7668202 intron variant -/C delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs730882029
rs730882029
TP53
0.882 0.200 17 7670685 stop gained G/A snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 11 2006 2016
dbSNP: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 10 1994 2012
dbSNP: rs397516435
rs397516435
TP53
0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 9 1994 2016
dbSNP: rs879253911
rs879253911
TP53
0.925 0.200 17 7675074 stop gained C/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 8 1990 2018
dbSNP: rs866380588
rs866380588
TP53
1.000 0.120 17 7674957 stop gained G/A snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 6 2010 2016
dbSNP: rs1131691026
rs1131691026
TP53
0.925 0.160 17 7675174 stop gained C/T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 5 2010 2016
dbSNP: rs121912652
rs121912652
TP53
0.882 0.200 17 7674191 stop gained C/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 4 1990 2014
dbSNP: rs121913344
rs121913344
TP53
0.925 0.200 17 7673704 stop gained G/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 4 1997 2017
dbSNP: rs755394212
rs755394212
TP53
1.000 0.120 17 7670649 stop gained G/A;T snv 2.0E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 4 2010 2015
dbSNP: rs17882252
rs17882252
TP53
0.925 0.120 17 7670694 stop gained C/A;G;T snv 8.0E-06; 6.4E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 3 1998 2016
dbSNP: rs201744589
rs201744589
TP53
0.882 0.240 17 7673728 stop gained C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2003 2003
dbSNP: rs730882001
rs730882001
TP53
0.925 0.200 17 7675119 stop gained G/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs1057523347
rs1057523347
TP53
0.925 0.160 17 7673789 stop gained A/G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1555526097
rs1555526097
TP53
0.925 0.120 17 7675113 stop gained G/A snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1555526478
rs1555526478
TP53
1.000 0.120 17 7675997 stop gained G/T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1567541951
rs1567541951
TP53
1.000 0.120 17 7670658 stop gained TGAGTTCCA/C delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1567553215
rs1567553215
TP53
1.000 0.120 17 7675119 stop gained GC/AG mnv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1567554500
rs1567554500
TP53
1.000 0.120 17 7675234 stop gained G/C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1567555934
rs1567555934
TP53
0.925 0.200 17 7676059 stop gained G/A snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1567556930
rs1567556930
TP53
1.000 0.120 17 7676218 stop gained C/A snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs587781845
rs587781845
TP53
0.925 0.200 17 7675101 stop gained C/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs764735889
rs764735889
TP53
1.000 0.120 17 7673579 stop gained G/A;T snv 4.0E-06 7.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs770776262
rs770776262
TP53
1.000 0.120 17 7676048 stop gained G/A;T snv 2.0E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs786201059
rs786201059
TP53
0.701 0.360 17 7673764 stop gained C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0