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: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2004 2004
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: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2010 2010
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 1.000 1 2009 2009
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0206650
Disease: Fibroadenoma
Fibroadenoma 		0.010 1.000 1 2008 2008
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2015 2015
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2015 2015
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2010 2010
dbSNP: rs1196929947
rs1196929947
ERBB2
0.882 0.080 17 39723351 missense variant G/A snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2018 2018
dbSNP: rs1196929947
rs1196929947
ERBB2
0.882 0.080 17 39723351 missense variant G/A snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2018 2018
dbSNP: rs1196929947
rs1196929947
ERBB2
0.882 0.080 17 39723351 missense variant G/A snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2018 2018
dbSNP: rs121913468
rs121913468
ERBB2
0.827 0.160 17 39724008 missense variant G/A;C;T snv
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.010 < 0.001 1 2016 2016
dbSNP: rs121913469
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.710 1.000 1 2004 2015
dbSNP: rs121913469
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs121913469
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2015 2015
dbSNP: rs121913470
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs121913470
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 1.000 1 2015 2015
dbSNP: rs121913470
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2008 2008
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: 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: 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: rs1284110310
rs1284110310
ERBB2
0.882 0.200 17 39706999 missense variant G/A snv 7.0E-06
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 1.000 1 2013 2013
dbSNP: rs1284110310
rs1284110310
ERBB2
0.882 0.200 17 39706999 missense variant G/A snv 7.0E-06
CUI: C0007140
Disease: Carcinosarcoma
Carcinosarcoma 		0.010 1.000 1 2010 2010