rs28928868, 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 0.120 4 1806164 missense variant G/C;T snv 4.0E-06 0.700 1.000 4 2000 2010
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
42 0.925 0.120 4 1806164 missense variant G/C;T snv 4.0E-06 0.700 0