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: rs28933368
rs28933368
ERBB2 ; MIR4728
0.851 0.080 17 39725721 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs28933368
rs28933368
ERBB2 ; MIR4728
0.851 0.080 17 39725721 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs28933369
rs28933369
ERBB2 ; MIR4728
0.925 0.080 17 39724744 missense variant G/A snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2011 2011
dbSNP: rs28933369
rs28933369
ERBB2 ; MIR4728
0.925 0.080 17 39724744 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 1 2011 2014
dbSNP: rs368094521
rs368094521
ERBB2 ; MIR4728
0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs368094521
rs368094521
ERBB2 ; MIR4728
0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019
dbSNP: rs368094521
rs368094521
ERBB2 ; MIR4728
0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs368094521
rs368094521
ERBB2 ; MIR4728
0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2009 2009
dbSNP: rs368094521
rs368094521
ERBB2 ; MIR4728
0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2009 2009
dbSNP: rs542027040
rs542027040
ERBB2 ; MIR4728
17 39724864 missense variant C/T snv 1.2E-05
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2000 2000
dbSNP: rs749539903
rs749539903
ERBB2 ; MIR4728
0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C1512981
Disease: Mammary Tumorigenesis
Mammary Tumorigenesis 		0.010 1.000 1 2016 2016
dbSNP: rs749539903
rs749539903
ERBB2 ; MIR4728
0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2012 2012
dbSNP: rs749539903
rs749539903
ERBB2 ; MIR4728
0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		0.010 1.000 1 2016 2016
dbSNP: rs749539903
rs749539903
ERBB2 ; MIR4728
0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2012 2012
dbSNP: rs749539903
rs749539903
ERBB2 ; MIR4728
0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C0007140
Disease: Carcinosarcoma
Carcinosarcoma 		0.010 1.000 1 2010 2010
dbSNP: rs749539903
rs749539903
ERBB2 ; MIR4728
0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs758222990
rs758222990
ERBB2 ; MIR4728
1.000 0.080 17 39725363 missense variant C/G;T snv 1.2E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs866679558
rs866679558
ERBB2 ; MIR4728
1.000 0.080 17 39724825 missense variant T/C snv
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine 		0.010 1.000 1 2019 2019
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: 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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.070 1.000 7 2008 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: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 0.750 4 2013 2017
dbSNP: rs1058808
rs1058808
ERBB2
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 		0.040 0.750 4 2013 2017
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: C0027651
Disease: Neoplasms
Neoplasms 		0.040 0.750 4 2014 2019