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: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.800 1.000 18 1990 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 12 1992 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
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: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.700 0
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.700 0
dbSNP: rs28934573
rs28934573
TP53
0.667 0.480 17 7674241 missense variant G/A;C;T snv 4.0E-06
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		0.010 1.000 1 2012 2012