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: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 0.500 2 2016 2018
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
dbSNP: rs1801200
rs1801200
ERBB2
0.790 0.200 17 39723335 missense variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2005 2008
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 < 0.001 1 2008 2008
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		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: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		0.010 < 0.001 1 2014 2014
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 < 0.001 1 2008 2008
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		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: C0018801
Disease: Heart failure
Heart failure 		0.010 1.000 1 2019 2019
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: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 1.000 1 2019 2019
dbSNP: rs1136201
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood 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: 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