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: rs2517955
rs2517955
ERBB2 ; PGAP3
1.000 0.080 17 39687428 intron variant C/T snv 0.51
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2011 2011
dbSNP: rs2517956
rs2517956
ERBB2 ; PGAP3
0.925 0.080 17 39687606 intron variant G/A snv 0.62
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs2517956
rs2517956
ERBB2 ; PGAP3
0.925 0.080 17 39687606 intron variant G/A snv 0.62
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1242562412
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 5 2007 2018
dbSNP: rs1242562412
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2007 2018
dbSNP: rs1242562412
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 5 2007 2018
dbSNP: rs2517959
rs2517959
ERBB2 ; PGAP3
1.000 0.040 17 39690259 intron variant A/T snv 0.62
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.700 1.000 1 2016 2016
dbSNP: rs146110680
rs146110680
ERBB2 ; PGAP3
17 39690883 intron variant G/A snv 1.5E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2643194
rs2643194
ERBB2 ; PGAP3
0.925 0.080 17 39696795 5 prime UTR variant C/T snv 0.67
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs2643194
rs2643194
ERBB2 ; PGAP3
0.925 0.080 17 39696795 5 prime UTR variant C/T snv 0.67
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2019 2019
dbSNP: rs2517951
rs2517951
ERBB2
0.925 0.080 17 39696844 intron variant C/T snv 0.52
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs2517951
rs2517951
ERBB2
0.925 0.080 17 39696844 intron variant C/T snv 0.52
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2009 2009
dbSNP: rs2934971
rs2934971
ERBB2
0.925 0.080 17 39698254 intron variant G/T snv 0.66
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2019 2019
dbSNP: rs2934971
rs2934971
ERBB2
0.925 0.080 17 39698254 intron variant G/T snv 0.66
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs2952155
rs2952155
ERBB2
1.000 0.080 17 39705465 intron variant T/C;G snv
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2011 2011
dbSNP: rs564064363
rs564064363
ERBB2
0.851 0.080 17 39706998 missense variant G/A;C snv 1.3E-05
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		0.010 1.000 1 2017 2017
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: rs564064363
rs564064363
ERBB2
0.851 0.080 17 39706998 missense variant G/A;C snv 1.3E-05
CUI: C0007130
Disease: Mucinous Adenocarcinoma
Mucinous Adenocarcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs564064363
rs564064363
ERBB2
0.851 0.080 17 39706998 missense variant G/A;C snv 1.3E-05
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		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: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2016 2019
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: 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: 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: C0007140
Disease: Carcinosarcoma
Carcinosarcoma 		0.010 1.000 1 2010 2010
dbSNP: rs369293607
rs369293607
ERBB2
17 39707018 synonymous variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2012 2012