rs121913114, 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.
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
21 0.925 0.120 4 1801930 missense variant A/G;T snv 4.0E-06 0.700 0
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
42 0.925 0.120 4 1801930 missense variant A/G;T snv 4.0E-06 0.700 0