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: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.010 1.000 1 1996 1996
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: 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: 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: 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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2002 2019
dbSNP: rs747200104
rs747200104
ERBB2
0.925 0.080 17 39717388 missense variant C/A;T snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs747200104
rs747200104
ERBB2
0.925 0.080 17 39717388 missense variant C/A;T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2003 2003
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2004 2004
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2004 2004
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
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: 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: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2005 2005
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		0.010 1.000 1 2005 2005
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2005 2005
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: 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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2006 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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 1.000 3 2006 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: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.030 1.000 3 2006 2016
dbSNP: rs1477349434
rs1477349434
ERBB2
1.000 17 39715520 missense variant G/C snv 4.0E-06
CUI: C3160887
Disease: Node-positive breast cancer
Node-positive breast cancer 		0.010 1.000 1 2006 2006