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: rs121918492
rs121918492
FGFR2
0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		0.810 1.000 0 1994 1998
dbSNP: rs121918492
rs121918492
FGFR2
0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.810 1.000 0 1994 2007