Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.710 1.000 0 2003 2003
dbSNP: rs886043613
rs886043613
FGFR3
0.925 0.080 4 1801519 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0