rs397515514, FGFR3

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.
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.925 0.080 4 1807261 stop lost G/T snv 0.700 0
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.925 0.080 4 1807261 stop lost G/T snv 0.700 0