Source: ALL

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: rs1555526750
rs1555526750
TP53
1.000 0.120 17 7676213 frameshift variant TT/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 2015 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: rs1555525170
rs1555525170
TP53
1.000 0.120 17 7673763 frameshift variant TCCTCTGTGC/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1567547661
rs1567547661
TP53
1.000 0.120 17 7673778 frameshift variant TC/- delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1060501212
rs1060501212
TP53
1.000 0.120 17 7674973 splice acceptor variant TAA/- del
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs78378222
rs78378222
TP53
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs121912666
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 1.000 43 1990 2018
dbSNP: rs587780073
rs587780073
TP53
0.708 0.400 17 7674262 missense variant T/C;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 16 1990 2017
dbSNP: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 2 2007 2014
dbSNP: rs730882026
rs730882026
TP53
0.742 0.440 17 7674256 missense variant T/C;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs148924904
rs148924904
TP53
0.724 0.360 17 7675124 missense variant T/C snv 7.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 12 1994 2015
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: rs864622115
rs864622115
TP53
1.000 0.120 17 7675092 missense variant T/C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 2 2007 2014
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: rs1060501207
rs1060501207
TP53
1.000 0.120 17 7673839 splice acceptor variant T/C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1555525585
rs1555525585
TP53
0.925 0.200 17 7674292 splice acceptor variant T/C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs1567549584
rs1567549584
TP53
0.925 0.120 17 7674245 missense variant T/C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
dbSNP: rs786203071
rs786203071
TP53
0.776 0.240 17 7675181 missense variant T/A;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 9 1990 1999
dbSNP: rs786201838
rs786201838
TP53
0.683 0.440 17 7674953 missense variant T/A;C;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 20 1990 2017
dbSNP: rs483352695
rs483352695
TP53
0.882 0.200 17 7674227 missense variant T/A;C;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 17 1990 2016
dbSNP: rs1057519985
rs1057519985
TP53
0.724 0.360 17 7673763 missense variant T/A;C;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 11 1990 2014
dbSNP: rs587781525
rs587781525
TP53
0.689 0.480 17 7673778 missense variant T/A;C;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 10 1999 2015
dbSNP: rs1057520007
rs1057520007
TP53
0.701 0.440 17 7674917 missense variant T/A;C;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 5 2000 2018
dbSNP: rs1057519992
rs1057519992
TP53
0.742 0.400 17 7674890 missense variant T/A;C;G snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 4 2002 2018
dbSNP: rs786202799
rs786202799
TP53
0.925 0.200 17 7675238 splice acceptor variant T/A;C;G snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 4 2010 2015