ERBB2, erb-b2 receptor tyrosine kinase 2, 2064

N. diseases: 995; N. variants: 85
Disease: HER2 gene amplification ×
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: rs121913471
rs121913471 		0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.030 0.667 3 2016 2017
dbSNP: rs1057519816
rs1057519816 		0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.020 1.000 2 2019 2019
dbSNP: rs121913468
rs121913468 		0.827 0.160 17 39724008 missense variant G/A;C;T snv
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.010 < 0.001 1 2016 2016
dbSNP: rs780881510
rs780881510 		0.925 0.080 17 39715299 missense variant A/C snv 1.2E-05
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.010 1.000 1 2000 2000