rs756016701, FGFR1

N. diseases: 3
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 0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06 0.020 1.000 2 2000 2002
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06 0.010 1.000 1 2002 2002
Unicoronal craniosynostosis
CUI: C0432124
Disease: Unicoronal craniosynostosis
3 0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06 0.010 1.000 1 2000 2000