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: rs201753350
rs201753350
TP53
1.000 0.120 17 7676387 missense variant C/A;T snv 2.5E-04; 4.0E-06
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 1 2007 2007
dbSNP: rs149633775
rs149633775
TP53
1.000 0.120 17 7673773 missense variant G/A;C;T snv 7.2E-05; 4.0E-06
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.700 0
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: rs17882252
rs17882252
TP53
0.925 0.120 17 7670694 stop gained C/A;G;T snv 8.0E-06; 6.4E-05
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 0
dbSNP: rs11540654
rs11540654
TP53
0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 11 1997 2014
dbSNP: rs11540654
rs11540654
TP53
0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1994 2014
dbSNP: rs11540654
rs11540654
TP53
0.925 0.200 17 7676040 missense variant C/A;G;T snv 4.8E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs121912654
rs121912654
TP53
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 13 1998 2011
dbSNP: rs121912654
rs121912654
TP53
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs121912654
rs121912654
TP53
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.720 1.000 0 2011 2011
dbSNP: rs371409680
rs371409680
TP53
0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1998 2015
dbSNP: rs371409680
rs371409680
TP53
0.790 0.120 17 7673772 missense variant C/G;T snv 4.0E-05 7.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 0
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: 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: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 1.000 20 1990 2018
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1 		0.700 1.000 14 1992 2016
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 2000 2017
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 4 2014 2016
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 3 1998 2016
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 1.000 1 2016 2016
dbSNP: rs28934576
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016