TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Disease: Breast Carcinoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064795369
rs1064795369 		0.882 0.080 17 7673791 missense variant A/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2003 2013
dbSNP: rs1131691036
rs1131691036 		0.851 0.080 17 7675207 frameshift variant GCA/CC delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2014 2016
dbSNP: rs1237722021
rs1237722021 		0.925 0.080 17 7676194 missense variant C/A snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2016
dbSNP: rs1064794312
rs1064794312 		0.925 0.080 17 7674278 missense variant A/G snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1159579789
rs1159579789 		0.925 0.080 17 7673578 missense variant T/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1177881399
rs1177881399 		0.925 0.080 17 7673557 missense variant T/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2287499
rs2287499 		0.925 0.080 17 7688850 missense variant C/G;T snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587781433
rs587781433 		0.925 0.080 17 7674197 missense variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs587782646
rs587782646 		0.925 0.080 17 7676576 missense variant C/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs372201428
rs372201428 		0.882 0.120 17 7676181 missense variant G/A;C snv 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2010
dbSNP: rs779196500
rs779196500 		0.882 0.120 17 7675187 missense variant G/A snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2008
dbSNP: rs1288373809
rs1288373809 		0.882 0.120 17 7673255 synonymous variant G/A snv 5.3E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs375275361
rs375275361 		0.827 0.120 17 7675054 missense variant A/G;T snv 1.2E-05; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs587782144
rs587782144 		0.807 0.160 17 7675139 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1625895
rs1625895 		0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2011
dbSNP: rs1457582183
rs1457582183 		0.827 0.200 17 7673608 missense variant G/A;C snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs587782596
rs587782596 		0.807 0.200 17 7675071 missense variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1800372
rs1800372 		0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2014 2017
dbSNP: rs1057520006
rs1057520006 		0.752 0.240 17 7673799 missense variant A/C;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs1800371
rs1800371 		0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs587780071
rs587780071 		0.732 0.240 17 7674951 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs397516435
rs397516435 		0.851 0.280 17 7674945 stop gained G/A;C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
dbSNP: rs121912664
rs121912664 		0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.070 1.000 7 2008 2016
dbSNP: rs375874539
rs375874539 		0.732 0.320 17 7674237 missense variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs762846821
rs762846821 		0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008