rs121913113, FGFR3

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.
CATSHL syndrome
CUI: C1864852
Disease: CATSHL syndrome
10 0.882 0.240 4 1806076 missense variant G/A snv 0.800 1.000 1 2006 2006
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.882 0.240 4 1806076 missense variant G/A snv 0.700 1.000 2 2006 2016
melanoma
CUI: C0025202
Disease: melanoma
515 0.882 0.240 4 1806076 missense variant G/A snv 0.010 1.000 1 2008 2008