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: rs1057519036
rs1057519036
FGFR2
0.925 0.080 10 121520092 missense variant A/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.800 0
dbSNP: rs1057519036
rs1057519036
FGFR2
0.925 0.080 10 121520092 missense variant A/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.700 1.000 6 1998 2014