Source: CLINVAR

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: 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 0 2016 2016
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: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.700 1.000 1 2013 2013
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: 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: 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: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		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
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: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		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: 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: 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: 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: 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: 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: 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: 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: 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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 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