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: rs121918487
rs121918487
FGFR2
0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.710 1.000 0 2017 2017