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: rs1057519738
rs1057519738
ERBB2 ; MIR4728
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2020 2020
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
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 0.667 3 2010 2019
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 0.667 3 2010 2019
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: 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: 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: 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: rs1057519738
rs1057519738
ERBB2 ; MIR4728
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine 		0.010 1.000 1 2019 2019
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2019 2019
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2019 2019
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2019 2019
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		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: C0018801
Disease: Heart failure
Heart failure 		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: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 1.000 1 2019 2019
dbSNP: rs121913470
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 1.000 1 2019 2019
dbSNP: rs121913471
rs121913471
ERBB2 ; MIR4728
0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C3642346
Disease: Luminal B Breast Carcinoma
Luminal B Breast Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs121913471
rs121913471
ERBB2 ; MIR4728
0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 1.000 1 2019 2019
dbSNP: rs1284110310
rs1284110310
ERBB2
0.882 0.200 17 39706999 missense variant G/A snv 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs1308088661
rs1308088661
ERBB2
17 39727880 missense variant G/A snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2019 2019