rs886043613, FGFR3

N. diseases: 4
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 1801519 missense variant C/T snv 0.700 0
Genu varum
CUI: C0544755
Disease: Genu varum
6 0.925 0.080 4 1801519 missense variant C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.080 4 1801519 missense variant C/T snv 0.700 0
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.925 0.080 4 1801519 missense variant C/T snv 0.700 0