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: rs1057519890
rs1057519890
0.807 0.200 17 39723966 missense variant T/A snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121913469
rs121913469
0.763 0.240 17 39723966 missense variant TT/CC mnv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121913470
rs121913470
0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016