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: rs121913468
rs121913468
ERBB2
0.827 0.160 17 39724008 missense variant G/A;C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2015 2018
dbSNP: rs121913470
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2017 2019
dbSNP: rs121913470
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2017 2019
dbSNP: rs121913471
rs121913471
ERBB2 ; MIR4728
0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2017 2019
dbSNP: rs121913471
rs121913471
ERBB2 ; MIR4728
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: rs121913471
rs121913471
ERBB2 ; MIR4728
0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2017 2019
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: 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: 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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.710 1.000 1 2016 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
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 1 2012 2014
dbSNP: rs1057519857
rs1057519857
ERBB2 ; MIR4728
0.882 0.080 17 39724772 missense variant T/C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs1057519857
rs1057519857
ERBB2 ; MIR4728
0.882 0.080 17 39724772 missense variant T/C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs1057519857
rs1057519857
ERBB2 ; MIR4728
0.882 0.080 17 39724772 missense variant T/C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2015 2015
dbSNP: rs1057519890
rs1057519890
ERBB2
0.807 0.200 17 39723966 missense variant T/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1131692237
rs1131692237
ERBB2 ; MIR4728
1.000 0.040 17 39725161 missense variant T/G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2018 2018
dbSNP: rs1196929947
rs1196929947
ERBB2
0.882 0.080 17 39723351 missense variant G/A snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2018 2018
dbSNP: rs1196929947
rs1196929947
ERBB2
0.882 0.080 17 39723351 missense variant G/A snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2018 2018
dbSNP: rs1196929947
rs1196929947
ERBB2
0.882 0.080 17 39723351 missense variant G/A snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2018 2018
dbSNP: rs121913468
rs121913468
ERBB2
0.827 0.160 17 39724008 missense variant G/A;C;T snv
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.010 < 0.001 1 2016 2016
dbSNP: rs121913469
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.710 1.000 1 2004 2015