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.
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.925 0.120 10 121520084 missense variant GC/AA;TA mnv 0.700 0
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: 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