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: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.810 1.000 2 2007 2011
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0004096
Disease: Asthma
Asthma 		0.700 1.000 1 2018 2018
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1 		0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.700 1.000 1 2018 2018
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0085655
Disease: Polymyositis
Polymyositis 		0.010 1.000 1 2015 2015
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11171739
rs11171739
ERBB3
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs34379766
rs34379766
ERBB3
12 56080359 missense variant C/A;T snv 4.6E-06; 4.6E-06
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs2271194
rs2271194
ERBB3
1.000 0.120 12 56083910 splice region variant A/T snv 0.63 0.53
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.700 1.000 1 2018 2018
dbSNP: rs1057519893
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		0.700 0
dbSNP: rs877636
rs877636
ERBB3
1.000 0.120 12 56086799 intron variant G/A snv 0.61
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2015 2015
dbSNP: rs877636
rs877636
ERBB3
1.000 0.120 12 56086799 intron variant G/A snv 0.61
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.700 1.000 1 2012 2012
dbSNP: rs1057519817
rs1057519817
ERBB3
12 56088073 missense variant C/A;G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs1057519803
rs1057519803
ERBB3
0.925 0.080 12 56088138 missense variant G/A snv
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer 		0.010 1.000 1 2015 2015