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: rs1019340046
rs1019340046
TP53
0.882 0.080 17 7674225 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1996 2009
dbSNP: rs1057517840
rs1057517840
TP53
0.925 0.200 17 7674904 frameshift variant CT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1996 2013
dbSNP: rs1057517840
rs1057517840
TP53
0.925 0.200 17 7674904 frameshift variant CT/- delins
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 1.000 1 1996 1996
dbSNP: rs1057517840
rs1057517840
TP53
0.925 0.200 17 7674904 frameshift variant CT/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1995 2017
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 3 2014 2014
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;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: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519747
rs1057519747
TP53
0.716 0.280 17 7675094 missense variant A/C;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/C;G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016