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: 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
dbSNP: rs1308088661
rs1308088661
ERBB2
17 39727880 missense variant G/A snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs1457127715
rs1457127715
ERBB2
17 39715810 missense variant G/A;C snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2011 2011
dbSNP: rs1457127715
rs1457127715
ERBB2
17 39715810 missense variant G/A;C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2011 2011
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
dbSNP: rs369293607
rs369293607
ERBB2
17 39707018 synonymous variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2012 2012
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: 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: 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: rs763371007
rs763371007
ERBB2
17 39709441 missense variant G/A snv 4.4E-05 4.9E-05
CUI: C1512981
Disease: Mammary Tumorigenesis
Mammary Tumorigenesis 		0.010 1.000 1 2015 2015
dbSNP: rs772604432
rs772604432
ERBB2
17 39727376 missense variant G/A;C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs959969530
rs959969530
ERBB2
17 39727763 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs1131692237
rs1131692237
ERBB2 ; MIR4728
1.000 0.040 17 39725161 missense variant T/G snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		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: C0027651
Disease: Neoplasms
Neoplasms 		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: C0030354
Disease: Papilloma
Papilloma 		0.010 1.000 1 2010 2010
dbSNP: rs896171398
rs896171398
ERBB2
1.000 0.040 17 39709846 missense variant G/A;C snv 1.6E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2017 2017
dbSNP: rs896171398
rs896171398
ERBB2
1.000 0.040 17 39709846 missense variant G/A;C snv 1.6E-05
CUI: C1512981
Disease: Mammary Tumorigenesis
Mammary Tumorigenesis 		0.010 1.000 1 2015 2015
dbSNP: rs977818812
rs977818812
ERBB2
1.000 0.040 17 39723608 missense variant A/T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2014 2014
dbSNP: rs977818812
rs977818812
ERBB2
1.000 0.040 17 39723608 missense variant A/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2019 2019
dbSNP: rs977818812
rs977818812
ERBB2
1.000 0.040 17 39723608 missense variant A/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2019 2019
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: 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