ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
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: rs121913470
rs121913470 		0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2008 2016
dbSNP: rs1242562412
rs1242562412 		1.000 17 39687906 stop gained C/A snv 2.1E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 5 2007 2018
dbSNP: rs1242562412
rs1242562412 		1.000 17 39687906 stop gained C/A snv 2.1E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2007 2018
dbSNP: rs1242562412
rs1242562412 		1.000 17 39687906 stop gained C/A snv 2.1E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 5 2007 2018
dbSNP: rs28933370
rs28933370 		0.882 0.120 17 39725125 missense variant A/G snv 7.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 5 2004 2013
dbSNP: rs397516981
rs397516981 		1.000 0.080 17 39724748 inframe insertion -/GGGCTCCCC delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 5 2005 2012
dbSNP: rs121913468
rs121913468 		0.827 0.160 17 39724008 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2006 2016
dbSNP: rs121913471
rs121913471 		0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2011 2016
dbSNP: rs121913468
rs121913468 		0.827 0.160 17 39724008 missense variant G/A;C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 2015 2018
dbSNP: rs121913470
rs121913470 		0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2017 2019
dbSNP: rs121913470
rs121913470 		0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2017 2019
dbSNP: rs121913471
rs121913471 		0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2017 2019
dbSNP: rs121913471
rs121913471 		0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2017 2019
dbSNP: rs121913471
rs121913471 		0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.030 0.667 3 2016 2017
dbSNP: rs397516980
rs397516980 		1.000 0.080 17 39724744 protein altering variant G/TTAT delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 3 2005 2006
dbSNP: rs397516982
rs397516982 		1.000 0.080 17 39724749 inframe insertion -/GGCTCCCCA delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 3 2004 2012
dbSNP: rs1057519816
rs1057519816 		0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.710 1.000 2 2016 2018
dbSNP: rs1057519816
rs1057519816 		0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.710 1.000 2 2012 2014
dbSNP: rs1057519816
rs1057519816 		0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.020 1.000 2 2019 2019
dbSNP: rs121913469
rs121913469 		0.763 0.240 17 39723966 missense variant TT/CC mnv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.710 1.000 2 2004 2015
dbSNP: rs1284110310
rs1284110310 		0.882 0.200 17 39706999 missense variant G/A snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2016 2019
dbSNP: rs1801200
rs1801200 		0.790 0.200 17 39723335 missense variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2005 2008
dbSNP: rs1801200
rs1801200 		0.790 0.200 17 39723335 missense variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2005 2008
dbSNP: rs1810132
rs1810132 		1.000 0.080 17 39709752 intron variant C/T snv 0.64
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2010 2011
dbSNP: rs28933369
rs28933369 		0.925 0.080 17 39724744 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.710 1.000 2 2011 2014