ERBB3, erb-b2 receptor tyrosine kinase 3, 2065

N. diseases: 318; N. variants: 16
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2292239
rs2292239
0.742 0.480 12 56088396 intron variant T/G snv 0.65
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.830 1.000 7 2007 2019
dbSNP: rs11171739
rs11171739
0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.810 1.000 2 2007 2011
dbSNP: rs755855285
rs755855285
12 56102035 missense variant G/A snv 1.1E-04 1.4E-04
ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO
0.800 1.000 1 2016 2016
dbSNP: rs1057519803
rs1057519803
0.925 0.080 12 56088138 missense variant G/A snv
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1057519803
rs1057519803
0.925 0.080 12 56088138 missense variant G/A snv
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1057519817
rs1057519817
12 56088073 missense variant C/A;G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.700 1.000 1 2013 2013
dbSNP: rs1057519891
rs1057519891
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06
Transitional cell carcinoma of bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519891
rs1057519891
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519891
rs1057519891
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519891
rs1057519891
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519891
rs1057519891
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
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519892
rs1057519892
0.851 0.160 12 56088558 missense variant A/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519892
rs1057519892
0.851 0.160 12 56088558 missense variant A/T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519892
rs1057519892
0.851 0.160 12 56088558 missense variant A/T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519892
rs1057519892
0.851 0.160 12 56088558 missense variant A/T snv
Transitional cell carcinoma of bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519892
rs1057519892
0.851 0.160 12 56088558 missense variant A/T snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
0.790 0.160 12 56085070 missense variant G/A;T snv
Transitional cell carcinoma of bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs10783779
rs10783779
12 56098096 intron variant T/A;G snv
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019