rs121913115, 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.
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
42 1.000 0.120 4 1801928 missense variant A/G snv 0.710 1.000 1 2013 2013
Short stature
CUI: C0349588
Disease: Short stature
292 1.000 0.120 4 1801928 missense variant A/G snv 0.700 0