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: rs1136201
rs1136201 		0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.895 38 2000 2018
dbSNP: rs1136201
rs1136201 		0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.895 38 2000 2018
dbSNP: rs372043866
rs372043866 		0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.070 1.000 7 2008 2018
dbSNP: rs1136201
rs1136201 		0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.050 0.600 5 2007 2013
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: rs1058808
rs1058808 		0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2013 2017
dbSNP: rs1058808
rs1058808 		0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.750 4 2013 2017
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: rs372043866
rs372043866 		0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.040 0.750 4 2014 2019
dbSNP: rs749539903
rs749539903 		0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2008 2017
dbSNP: rs749539903
rs749539903 		0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2008 2017
dbSNP: rs1057519738
rs1057519738 		0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2006 2016
dbSNP: rs1136201
rs1136201 		0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 0.667 3 2010 2019
dbSNP: rs1136201
rs1136201 		0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 0.667 3 2010 2019
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