ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 23; N. variants: 28
Source: CLINVAR ×
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: rs1057519816
rs1057519816
0.763 0.200 17 39711955 missense variant C/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: rs121913468
rs121913468
0.827 0.160 17 39724008 missense variant G/A;C;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