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: rs387907372
rs387907372
FGFR2
1.000 0.080 10 121520160 missense variant GGC/AAG mnv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.700 0