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: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 9 1990 2014
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1999 2011
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.700 1.000 1 2016 2016
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2016 2016
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.700 1.000 1 2016 2016
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
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: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs587781288
rs587781288
TP53
0.732 0.440 17 7675190 missense variant C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0