EGFR, epidermal growth factor receptor, 1956

N. diseases: 1394; N. variants: 183
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: rs2227983
rs2227983 		0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2012 2017
dbSNP: rs1169803481
rs1169803481 		0.807 0.160 7 55198851 missense variant A/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2008 2013
dbSNP: rs1057519847
rs1057519847 		0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2015
dbSNP: rs1057519848
rs1057519848 		0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2015
dbSNP: rs121434568
rs121434568 		0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2015
dbSNP: rs121434569
rs121434569 		0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2015
dbSNP: rs778985185
rs778985185 		0.851 0.160 7 55163734 missense variant G/A snv 8.0E-06 3.5E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2014 2017
dbSNP: rs1140476
rs1140476 		0.925 0.080 7 55200396 missense variant C/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1334180707
rs1334180707 		0.925 0.080 7 55161510 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 2012 2012
dbSNP: rs1408630981
rs1408630981 		0.827 0.120 7 55205492 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 2016 2016
dbSNP: rs397517132
rs397517132 		0.623 0.280 7 55191846 missense variant A/T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs751295137
rs751295137 		0.851 0.160 7 55152582 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs760101437
rs760101437 		0.851 0.160 7 55154018 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009