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: rs1000256867
rs1000256867
TP53
17 7673550 missense variant T/A;G snv 4.0E-06
CUI: C0333875
Disease: High-Grade Squamous Intraepithelial Lesions
High-Grade Squamous Intraepithelial Lesions 		0.010 1.000 1 2020 2020
dbSNP: rs1011445550
rs1011445550
TP53
0.925 0.080 17 7676391 missense variant G/C snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2011 2011
dbSNP: rs1011445550
rs1011445550
TP53
0.925 0.080 17 7676391 missense variant G/C snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs1019340046
rs1019340046
TP53
0.882 0.080 17 7674225 missense variant C/T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 < 0.001 1 1993 1993
dbSNP: rs1019340046
rs1019340046
TP53
0.882 0.080 17 7674225 missense variant C/T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 < 0.001 1 1993 1993
dbSNP: rs1019340046
rs1019340046
TP53
0.882 0.080 17 7674225 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 1993 1993
dbSNP: rs1019340046
rs1019340046
TP53
0.882 0.080 17 7674225 missense variant C/T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 < 0.001 1 1993 1993
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0002793
Disease: Anaplasia
Anaplasia 		0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0278726
Disease: Small cell lung cancer extensive stage
Small cell lung cancer extensive stage 		0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1334177
Disease: Infiltrating Cervical Carcinoma
Infiltrating Cervical Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 1.000 1 2007 2007
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2009 2009
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2008 2008
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1276146
Disease: Cutaneous lymphoma
Cutaneous lymphoma 		0.010 < 0.001 1 2006 2006
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2009 2009
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2008 2008
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 1.000 1 2005 2005
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2018 2018
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		0.010 1.000 1 2009 2009
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C1827820
Disease: Fast acetylator due to N-acetyltransferase enzyme variant
Fast acetylator due to N-acetyltransferase enzyme variant 		0.010 1.000 1 2016 2016
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0153382
Disease: Malignant neoplasm of oropharynx
Malignant neoplasm of oropharynx 		0.010 1.000 1 2010 2010
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0851140
Disease: Carcinoma in situ of uterine cervix
Carcinoma in situ of uterine cervix 		0.010 1.000 1 2009 2009