Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913475
rs121913475
FGFR2
10 121519989 missense variant T/C snv
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms 		0.700 1.000 1 2014 2014