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: rs1057519037
rs1057519037
FGFR2
0.925 0.120 10 121520084 missense variant GC/AA;TA mnv
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		0.700 1.000 4 1995 2014
dbSNP: rs1057519037
rs1057519037
FGFR2
0.925 0.120 10 121520084 missense variant GC/AA;TA mnv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.700 0