Source: ALL

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: 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: 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: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs763193414
rs763193414
ERBB2
0.827 0.160 17 39707034 missense variant G/A snv 3.7E-05 4.9E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2009 2009
dbSNP: rs763193414
rs763193414
ERBB2
0.827 0.160 17 39707034 missense variant G/A snv 3.7E-05 4.9E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2009 2009
dbSNP: rs763193414
rs763193414
ERBB2
0.827 0.160 17 39707034 missense variant G/A snv 3.7E-05 4.9E-05
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2009 2009
dbSNP: rs763193414
rs763193414
ERBB2
0.827 0.160 17 39707034 missense variant G/A snv 3.7E-05 4.9E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2016 2016
dbSNP: rs759478535
rs759478535
ERBB2
0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs759478535
rs759478535
ERBB2
0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs759478535
rs759478535
ERBB2
0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2016 2016
dbSNP: rs759478535
rs759478535
ERBB2
0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		0.010 1.000 1 2016 2016
dbSNP: rs759478535
rs759478535
ERBB2
0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs759478535
rs759478535
ERBB2
0.851 0.080 17 39708351 missense variant A/G snv 6.8E-05 4.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs767151455
rs767151455
ERBB2
0.925 0.080 17 39708379 missense variant C/T snv 8.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2018 2018
dbSNP: rs767151455
rs767151455
ERBB2
0.925 0.080 17 39708379 missense variant C/T snv 8.0E-06
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs767151455
rs767151455
ERBB2
0.925 0.080 17 39708379 missense variant C/T snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs767151455
rs767151455
ERBB2
0.925 0.080 17 39708379 missense variant C/T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs1416951791
rs1416951791
ERBB2
1.000 0.040 17 39708413 missense variant G/C snv 4.0E-06
CUI: C0030354
Disease: Papilloma
Papilloma 		0.010 1.000 1 2010 2010
dbSNP: rs1416951791
rs1416951791
ERBB2
1.000 0.040 17 39708413 missense variant G/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2010 2010
dbSNP: rs372811772
rs372811772
ERBB2
17 39708435 synonymous variant C/T snv 8.0E-06 2.1E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs372811772
rs372811772
ERBB2
17 39708435 synonymous variant C/T snv 8.0E-06 2.1E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018
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: rs527779103
rs527779103
ERBB2
0.925 0.080 17 39708528 missense variant C/T snv 5.4E-04 1.4E-04
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs527779103
rs527779103
ERBB2
0.925 0.080 17 39708528 missense variant C/T snv 5.4E-04 1.4E-04
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2018 2018