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: rs587781664
rs587781664
TP53
1.000 0.120 17 7669692 splice acceptor variant T/C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 3 2010 2015
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: 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: rs397516434
rs397516434
TP53
1.000 0.120 17 7670669 missense variant G/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 2 2016 2016
dbSNP: rs121912662
rs121912662
TP53
0.925 0.120 17 7670678 missense variant A/G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 3 1990 2017
dbSNP: rs375338359
rs375338359
TP53
0.882 0.200 17 7670684 missense variant C/G;T snv 8.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.720 1.000 9 1998 2015
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: 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: rs121912664
rs121912664
TP53
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.900 0.977 14 1990 2020
dbSNP: rs587782529
rs587782529
TP53
0.851 0.200 17 7670700 missense variant G/A;C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.810 1.000 10 1990 2014
dbSNP: rs587782272
rs587782272
TP53
1.000 0.120 17 7670716 splice acceptor variant C/G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 2 2000 2010
dbSNP: rs11575997
rs11575997
TP53
0.925 0.200 17 7673534 splice donor variant C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 3 2000 2016
dbSNP: rs1131691033
rs1131691033
TP53
1.000 0.120 17 7673534 splice donor variant C/- delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2000 2000
dbSNP: rs11575996
rs11575996
TP53
1.000 0.120 17 7673535 missense variant C/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 2 2012 2018
dbSNP: rs1555524949
rs1555524949
TP53
1.000 0.120 17 7673535 frameshift variant CTGA/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs876659384
rs876659384
TP53
0.851 0.240 17 7673552 stop gained C/A snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.710 1.000 0 2004 2004
dbSNP: rs863224500
rs863224500
TP53
1.000 0.120 17 7673555 stop gained C/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1567546196
rs1567546196
TP53
0.925 0.200 17 7673579 frameshift variant G/- delins
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: rs587781702
rs587781702
TP53
0.925 0.200 17 7673609 splice acceptor variant C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs397516439
rs397516439
TP53
0.925 0.200 17 7673610 splice acceptor variant T/C snv 8.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2001 2001
dbSNP: rs1555525040
rs1555525040
TP53
1.000 0.120 17 7673691 splice donor variant GCTTACCTCGCTT/- delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2010 2010
dbSNP: rs1567546716
rs1567546716
TP53
1.000 0.120 17 7673695 splice donor variant CCTCGCTTA/- delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1131691016
rs1131691016
TP53
0.925 0.240 17 7673699 splice donor variant A/C;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2010 2010