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: 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: 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: 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: 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: rs931676601
rs931676601
ERBB3
12 56097196 missense variant A/G;T snv
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
dbSNP: rs1057519803
rs1057519803
ERBB3
0.925 0.080 12 56088138 missense variant G/A snv
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs1057519803
rs1057519803
ERBB3
0.925 0.080 12 56088138 missense variant G/A snv
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 1.000 1 2015 2015
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: rs3202538
rs3202538
ERBB3 ; LOC105369782
0.925 0.080 12 56102447 3 prime UTR variant G/T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs3202538
rs3202538
ERBB3 ; LOC105369782
0.925 0.080 12 56102447 3 prime UTR variant G/T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2017 2017
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: 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: 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: 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: rs1057519891
rs1057519891
ERBB3
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs1057519891
rs1057519891
ERBB3
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		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: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		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: rs1057519891
rs1057519891
ERBB3
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519892
rs1057519892
ERBB3
0.851 0.160 12 56088558 missense variant A/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		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: rs1057519892
rs1057519892
ERBB3
0.851 0.160 12 56088558 missense variant A/T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016