rs1057519037, FGFR2

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cutis Gyrata Syndrome of Beare And Stevenson
16 0.925 0.120 10 121520084 missense variant GC/AA;TA mnv 0.700 1.000 4 1995 2014
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.925 0.120 10 121520084 missense variant GC/AA;TA mnv 0.700 0