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: rs397516975
rs397516975
ERBB2 ; MIR4728
0.925 0.080 17 39724728 inframe insertion -/ATACGTGATGGC delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs397516975
rs397516975
ERBB2 ; MIR4728
0.925 0.080 17 39724728 inframe insertion -/ATACGTGATGGC delins
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs397516976
rs397516976
ERBB2 ; MIR4728
1.000 0.080 17 39724733 inframe insertion -/CTCCGTGATGGC delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2004 2012
dbSNP: rs1057519737
rs1057519737
ERBB2 ; MIR4728
17 39724750 inframe insertion -/GCTCCCCAG delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs397516982
rs397516982
ERBB2 ; MIR4728
1.000 0.080 17 39724749 inframe insertion -/GGCTCCCCA delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 3 2004 2012
dbSNP: rs397516981
rs397516981
ERBB2 ; MIR4728
1.000 0.080 17 39724748 inframe insertion -/GGGCTCCCC delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 5 2005 2012
dbSNP: rs397516977
rs397516977
ERBB2 ; MIR4728
1.000 0.080 17 39724731 inframe insertion -/TACGTGATGGCT delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs1555618025
rs1555618025
ERBB2 ; MIR4728
1.000 0.080 17 39724733 inframe insertion -/TCCGTGATGGCT delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs397516979
rs397516979
ERBB2 ; MIR4728
1.000 0.080 17 39724744 protein altering variant -/TCT;TGT;TTT ins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2005 2006
dbSNP: rs397516979
rs397516979
ERBB2 ; MIR4728
1.000 0.080 17 39724744 protein altering variant -/TCT;TGT;TTT ins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs587776805
rs587776805
ERBB2 ; MIR4728
1.000 0.040 17 39724745 inframe insertion -/TGTGGGCTC delins
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs397516978
rs397516978
ERBB2 ; MIR4728
1.000 0.080 17 39724738 frameshift variant A/- del
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs780881510
rs780881510
ERBB2
0.925 0.080 17 39715299 missense variant A/C snv 1.2E-05
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.010 1.000 1 1996 1996
dbSNP: rs780881510
rs780881510
ERBB2
0.925 0.080 17 39715299 missense variant A/C snv 1.2E-05
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.010 1.000 1 2000 2000
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: rs28933370
rs28933370
ERBB2 ; MIR4728
0.882 0.120 17 39725125 missense variant A/G snv 7.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 1.000 5 2004 2013
dbSNP: rs1396809633
rs1396809633
ERBB2
0.925 0.080 17 39711979 missense variant A/G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs1396809633
rs1396809633
ERBB2
0.925 0.080 17 39711979 missense variant A/G snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1485579458
rs1485579458
ERBB2
0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs1485579458
rs1485579458
ERBB2
0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1485579458
rs1485579458
ERBB2
0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs1485579458
rs1485579458
ERBB2
0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs28933370
rs28933370
ERBB2 ; MIR4728
0.882 0.120 17 39725125 missense variant A/G snv 7.0E-06
CUI: C0948216
Disease: Ovarian adenocarcinoma
Ovarian adenocarcinoma 		0.700 1.000 1 2008 2008
dbSNP: rs2952156
rs2952156
ERBB2
1.000 0.080 17 39720582 intron variant A/G snv 0.65
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2018 2018
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