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: rs1358919643
rs1358919643
FGFR2
1.000 0.080 10 121517463 missense variant C/A;T snv 4.0E-06
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.700 1.000 2 1995 1998