Source: BEFREE

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: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.820 1.000 2 1990 2015
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.760 0.857 6 1999 2019
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.710 1.000 1 2016 2017
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.710 1.000 1 2010 2016
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.710 1.000 1 1991 2016
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 0.667 3 2007 2019
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 0.667 3 2007 2019
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.020 1.000 2 2004 2008
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.020 1.000 2 2004 2008
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2013 2013
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2018 2018
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2007 2007
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0023652
Disease: Lichen Sclerosus et Atrophicus
Lichen Sclerosus et Atrophicus 		0.010 1.000 1 2007 2007
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 < 0.001 1 2015 2015
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2008 2008
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2008 2008
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0867389
Disease: Chronic graft-versus-host disease
Chronic graft-versus-host disease 		0.010 1.000 1 2018 2018
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0001618
Disease: Tumors of Adrenal Cortex
Tumors of Adrenal Cortex 		0.010 1.000 1 2008 2008
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs121912651
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2008 2008