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: 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: 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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2008 2008
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: 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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.070 1.000 7 2008 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: rs564064363
rs564064363
ERBB2
0.851 0.080 17 39706998 missense variant G/A;C snv 1.3E-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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2017 2017
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: 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: rs866679558
rs866679558
ERBB2 ; MIR4728
1.000 0.080 17 39724825 missense variant T/C snv
CUI: C0278803
Disease: Adenocarcinoma of small intestine
Adenocarcinoma of small intestine 		0.010 1.000 1 2019 2019
dbSNP: rs61552325
rs61552325
ERBB2
0.882 0.080 17 39727784 missense variant C/G snv
CUI: C1654637
Disease: androgen independent prostate cancer
androgen independent prostate cancer 		0.010 1.000 1 2017 2017
dbSNP: rs1284110310
rs1284110310
ERBB2
0.882 0.200 17 39706999 missense variant G/A snv 7.0E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 1.000 1 2013 2013
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0004096
Disease: Asthma
Asthma 		0.710 1.000 1 2011 2013
dbSNP: rs752295912
rs752295912
ERBB2
0.925 0.080 17 39710398 missense variant C/T snv 1.6E-05
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 < 0.001 1 2018 2018
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2004 2004
dbSNP: rs1058808
rs1058808
ERBB2
0.658 0.360 17 39727784 missense variant C/G snv 0.61 0.52
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2005 2005
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2005 2005
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: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 0.895 38 2000 2018
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: rs749539903
rs749539903
ERBB2 ; MIR4728
0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 1.000 4 2008 2017
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2017 2019
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: rs1801200
rs1801200
ERBB2
0.790 0.200 17 39723335 missense variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2005 2008