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: rs879253721
rs879253721
FGFR2
0.925 0.080 10 121517316 splice region variant T/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.700 0
dbSNP: rs879253721
rs879253721
FGFR2
0.925 0.080 10 121517316 splice region variant T/C snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.700 0