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: 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: rs1238981206
rs1238981206
ERBB2 ; MIR4728
0.925 0.080 17 39724828 missense variant G/A snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs1238981206
rs1238981206
ERBB2 ; MIR4728
0.925 0.080 17 39724828 missense variant G/A snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2015 2015
dbSNP: rs1238981206
rs1238981206
ERBB2 ; MIR4728
0.925 0.080 17 39724828 missense variant G/A snv 4.0E-06
CUI: C1333280
Disease: Desmoplastic melanoma
Desmoplastic melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs1324255598
rs1324255598
ERBB2 ; MIR4728
1.000 0.080 17 39725780 missense variant C/G snv 4.0E-06
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma 		0.010 1.000 1 2017 2017
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: rs1416532705
rs1416532705
ERBB2
0.882 0.080 17 39709435 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2012 2012
dbSNP: rs1416532705
rs1416532705
ERBB2
0.882 0.080 17 39709435 missense variant C/T snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1416532705
rs1416532705
ERBB2
0.882 0.080 17 39709435 missense variant C/T snv 4.0E-06
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma 		0.010 1.000 1 2012 2012
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: rs150203173
rs150203173
ERBB2
1.000 0.080 17 39716421 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2019 2019
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: rs185670819
rs185670819
ERBB2
0.925 0.080 17 39708523 missense variant G/A;C snv 5.0E-04; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs185670819
rs185670819
ERBB2
0.925 0.080 17 39708523 missense variant G/A;C snv 5.0E-04; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs200382130
rs200382130
ERBB2
0.925 0.080 17 39710388 missense variant G/T snv 2.0E-04 1.2E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs200382130
rs200382130
ERBB2
0.925 0.080 17 39710388 missense variant G/T snv 2.0E-04 1.2E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2517951
rs2517951
ERBB2
0.925 0.080 17 39696844 intron variant C/T snv 0.52
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs2517951
rs2517951
ERBB2
0.925 0.080 17 39696844 intron variant C/T snv 0.52
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2009 2009
dbSNP: rs2517956
rs2517956
ERBB2 ; PGAP3
0.925 0.080 17 39687606 intron variant G/A snv 0.62
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015