Gene: ERBB2 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519816
rs1057519816
ERBB2
10 0.763 0.200 17 39711955 missense variant C/A;T snv 0.710 1.000 1 2016 2018
dbSNP: rs1057519787
rs1057519787
ERBB2
2 1.000 0.040 17 39711952 missense variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1131692237
rs1131692237
ERBB2 ; MIR4728
1 1.000 0.040 17 39725161 missense variant T/G snv 0.700 0
dbSNP: rs121913469
rs121913469
ERBB2
8 0.763 0.240 17 39723966 missense variant TT/CC mnv 0.700 0
dbSNP: rs397516975
rs397516975
ERBB2 ; MIR4728
2 0.925 0.080 17 39724728 inframe insertion -/ATACGTGATGGC delins 0.700 0
dbSNP: rs587776805
rs587776805
ERBB2 ; MIR4728
1 1.000 0.040 17 39724745 inframe insertion -/TGTGGGCTC delins 0.700 0