ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
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: rs1238981206
rs1238981206
0.925 0.080 17 39724828 missense variant G/A snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1457127715
rs1457127715
17 39715810 missense variant G/A;C snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs28933369
rs28933369
0.925 0.080 17 39724744 missense variant G/A snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs763193414
rs763193414
0.827 0.160 17 39707034 missense variant G/A snv 3.7E-05 4.9E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016