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: rs55863639
rs55863639
TP53
1.000 0.120 17 7675994 splice region variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 18 1989 2015
dbSNP: rs587780075
rs587780075
TP53
1.000 0.120 17 7673820 missense variant C/G;T snv 1.2E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 18 1990 2017
dbSNP: rs149633775
rs149633775
TP53
1.000 0.120 17 7673773 missense variant G/A;C;T snv 7.2E-05; 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 11 1990 2014
dbSNP: rs28934577
rs28934577
TP53
1.000 0.120 17 7674193 missense variant A/C;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 11 1990 2014
dbSNP: rs534447939
rs534447939
TP53
1.000 0.120 17 7676124 missense variant G/A;C snv 2.0E-05 7.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 11 1990 2014
dbSNP: rs55863639
rs55863639
TP53
1.000 0.120 17 7675994 splice region variant C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 11 1992 2016
dbSNP: rs786202752
rs786202752
TP53
1.000 0.120 17 7675148 missense variant G/C;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 11 1990 2014
dbSNP: rs786204041
rs786204041
TP53
1.000 0.120 17 7674942 missense variant C/A;G;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 11 1990 2014
dbSNP: rs878854074
rs878854074
TP53
1.000 0.120 17 7674210 missense variant G/A;C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 11 1990 2014
dbSNP: rs144340710
rs144340710
TP53
1.000 0.120 17 7674259 missense variant T/A;C snv 4.0E-06; 1.8E-04
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.710 1.000 10 1990 2017
dbSNP: rs879253894
rs879253894
TP53
1.000 0.120 17 7674876 missense variant G/A snv 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 10 2003 2015
dbSNP: rs112431538
rs112431538
TP53
1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 9 1997 2015
dbSNP: rs112431538
rs112431538
TP53
1.000 0.120 17 7673767 missense variant C/T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2000 2013
dbSNP: rs1131691023
rs1131691023
TP53
1.000 0.080 17 7675142 missense variant A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1994 2016
dbSNP: rs751477326
rs751477326
TP53
1.000 0.080 17 7675082 missense variant G/A;C snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1995 2016
dbSNP: rs879253894
rs879253894
TP53
1.000 0.120 17 7674876 missense variant G/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1994 2015
dbSNP: rs1064795203
rs1064795203
TP53
1.000 0.120 17 7675080 missense variant G/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2011 2017
dbSNP: rs1064795203
rs1064795203
TP53
1.000 0.120 17 7675080 missense variant G/C;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 6 2003 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: rs1131691043
rs1131691043
TP53
1.000 0.120 17 7675098 missense variant C/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2005 2016
dbSNP: rs1555525279
rs1555525279
TP53
1.000 0.120 17 7673795 missense variant A/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1994 2015
dbSNP: rs1555525703
rs1555525703
TP53
1.000 0.120 17 7674857 splice donor variant A/T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 4 2003 2013
dbSNP: rs1567553501
rs1567553501
TP53
1.000 0.120 17 7675138 missense variant GC/AA mnv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 4 2003 2015
dbSNP: rs587780075
rs587780075
TP53
1.000 0.120 17 7673820 missense variant C/G;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1992 2012
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