rs75790268, 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 1804377 missense variant G/T snv 0.850 1.000 10 1994 2012
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.925 0.120 4 1804377 missense variant G/T snv 0.020 1.000 2 1999 2012