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: rs113488022
rs113488022 		0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.010 1.000 1 2013 2013
dbSNP: rs121913377
rs121913377 		0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.010 1.000 1 2013 2013