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: rs1131691014
rs1131691014 		0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.833 42 2003 2018
dbSNP: rs878854066
rs878854066 		0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.833 42 2003 2018
dbSNP: rs1057520001
rs1057520001 		0.677 0.360 17 7674886 missense variant A/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 1997 2019
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: rs879253942
rs879253942 		0.677 0.400 17 7673826 missense variant A/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2005 2011
dbSNP: rs886039484
rs886039484 		0.641 0.440 17 7674888 missense variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 1997 2019
dbSNP: rs1057519975
rs1057519975 		0.649 0.480 17 7675209 missense variant A/C;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2014 2016
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: rs17849781
rs17849781 		0.701 0.480 17 7673788 missense variant G/A;C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2004 2008
dbSNP: rs1057519981
rs1057519981 		0.689 0.440 17 7674251 missense variant A/C;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2003 2003
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: 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: 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: 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: 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: 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: rs760043106
rs760043106 		0.645 0.440 17 7674947 missense variant A/C;G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs78378222
rs78378222 		0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
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: 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: 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: rs587781858
rs587781858 		0.742 0.360 17 7669671 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 2018 2018
dbSNP: rs28934578
rs28934578 		0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.060 1.000 6 2009 2018