Source: BEFREE

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: rs121918498
rs121918498
FGFR2
1.000 0.080 10 121520162 missense variant CG/AA mnv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.810 1.000 1 1995 2004