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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
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: 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: 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: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 < 0.001 1 2018 2018
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.710 1.000 1 2016 2018
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C4744444
Disease: Metastatic Lung Adenocarcinoma
Metastatic Lung Adenocarcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 1 2012 2014
dbSNP: rs1057519857
rs1057519857
ERBB2 ; MIR4728
0.882 0.080 17 39724772 missense variant T/C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs1057519857
rs1057519857
ERBB2 ; MIR4728
0.882 0.080 17 39724772 missense variant T/C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs1057519857
rs1057519857
ERBB2 ; MIR4728
0.882 0.080 17 39724772 missense variant T/C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2015 2015
dbSNP: rs1057519890
rs1057519890
ERBB2
0.807 0.200 17 39723966 missense variant T/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
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: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		0.020 1.000 2 2013 2016
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2015 2015
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0013595
Disease: Eczema
Eczema 		0.010 < 0.001 1 2018 2018
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2008 2008
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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2008 2008
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: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2013 2013