Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs780881510
rs780881510
ERBB2
0.925 0.080 17 39715299 missense variant A/C snv 1.2E-05
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.010 1.000 1 2000 2000
dbSNP: rs780881510
rs780881510
ERBB2
0.925 0.080 17 39715299 missense variant A/C snv 1.2E-05
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.010 1.000 1 1996 1996
dbSNP: rs1801201
rs1801201
ERBB2
1.000 0.080 17 39723332 missense variant A/C;G snv 4.0E-06; 4.9E-03
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2005 2005
dbSNP: rs1396809633
rs1396809633
ERBB2
0.925 0.080 17 39711979 missense variant A/G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs1396809633
rs1396809633
ERBB2
0.925 0.080 17 39711979 missense variant A/G snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1485579458
rs1485579458
ERBB2
0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs1485579458
rs1485579458
ERBB2
0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs1485579458
rs1485579458
ERBB2
0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1485579458
rs1485579458
ERBB2
0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs759478535
rs759478535
ERBB2
0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs759478535
rs759478535
ERBB2
0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs759478535
rs759478535
ERBB2
0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs759478535
rs759478535
ERBB2
0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2016 2016
dbSNP: rs759478535
rs759478535
ERBB2
0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		0.010 1.000 1 2016 2016
dbSNP: rs759478535
rs759478535
ERBB2
0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs1136201
rs1136201
ERBB2
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 		0.100 0.895 38 2000 2018
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.895 38 2000 2018
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 0.600 5 2007 2013
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 0.667 3 2010 2019
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 0.667 3 2010 2019
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 0.500 2 2002 2019
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 0.500 2 2016 2018
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		0.020 1.000 2 2014 2015
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2002 2019
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.020 0.500 2 2016 2018