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: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
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: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.700 1.000 1 2018 2018
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		0.700 1.000 1 2015 2015
dbSNP: rs79335261
rs79335261
ERBB3 ; PA2G4 ; LOC105369782
1.000 0.080 12 56103857 intron variant G/A;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2016 2016
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: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs10783779
rs10783779
ERBB3
12 56098096 intron variant T/A;G snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1057519803
rs1057519803
ERBB3
0.925 0.080 12 56088138 missense variant G/A snv
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs765301443
rs765301443
ERBB3
1.000 0.080 12 56098767 missense variant G/A;C snv 8.0E-06; 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2015 2015
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: 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: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2015 2015
dbSNP: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.830 1.000 7 2007 2019
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: rs2292239
rs2292239
ERBB3
0.742 0.480 12 56088396 intron variant T/G snv 0.65
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.010 1.000 1 2015 2015
dbSNP: rs755855285
rs755855285
ERBB3
12 56102035 missense variant G/A snv 1.1E-04 1.4E-04
CUI: C4746575
Disease: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO
ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO 		0.800 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: rs1057519891
rs1057519891
ERBB3
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519892
rs1057519892
ERBB3
0.851 0.160 12 56088558 missense variant 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: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
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
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