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: rs777081311
rs777081311
ERBB2
0.925 0.080 17 39710347 missense variant T/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2005 2012
dbSNP: rs777081311
rs777081311
ERBB2
0.925 0.080 17 39710347 missense variant T/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2005 2012
dbSNP: rs1057519816
rs1057519816
ERBB2
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: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		0.020 1.000 2 2013 2016
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
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 0.500 2 2016 2018
dbSNP: rs1284110310
rs1284110310
ERBB2
0.882 0.200 17 39706999 missense variant G/A snv 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2016 2019
dbSNP: rs1801200
rs1801200
ERBB2
0.790 0.200 17 39723335 missense variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2005 2008
dbSNP: rs1801200
rs1801200
ERBB2
0.790 0.200 17 39723335 missense variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2005 2008
dbSNP: rs372043866
rs372043866
ERBB2
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.020 1.000 2 2013 2015
dbSNP: rs372043866
rs372043866
ERBB2
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 1.000 2 2014 2016
dbSNP: rs372043866
rs372043866
ERBB2
0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05
CUI: C0278987
Disease: Metastatic non-small cell lung cancer
Metastatic non-small cell lung cancer 		0.020 1.000 2 2014 2018
dbSNP: rs749539903
rs749539903
ERBB2 ; MIR4728
0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2017 2017
dbSNP: rs763193414
rs763193414
ERBB2
0.827 0.160 17 39707034 missense variant G/A snv 3.7E-05 4.9E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2016 2018
dbSNP: rs763193414
rs763193414
ERBB2
0.827 0.160 17 39707034 missense variant G/A snv 3.7E-05 4.9E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2016 2018
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine 		0.010 1.000 1 2019 2019
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2020 2020
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 < 0.001 1 2018 2018
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C4744444
Disease: Metastatic Lung Adenocarcinoma
Metastatic Lung Adenocarcinoma 		0.010 1.000 1 2014 2014