Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913112
rs121913112
FGFR3
1 1.000 0.280 4 1805561 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.800 1.000 1 2006 2006