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: rs121918502
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.820 1.000 0 1995 2014
dbSNP: rs121918502
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		0.800 1.000 0 2000 2000
dbSNP: rs121918502
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.710 1.000 4 1996 2014
dbSNP: rs121918502
rs121918502
FGFR2
0.790 0.160 10 121517351 missense variant G/C snv
CUI: C4016345
Disease: PFEIFFER SYNDROME, TYPE III
PFEIFFER SYNDROME, TYPE III 		0.700 0