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: rs886043613
rs886043613
FGFR3
0.925 0.080 4 1801519 missense variant C/T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 0
dbSNP: rs886043613
rs886043613
FGFR3
0.925 0.080 4 1801519 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
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
dbSNP: rs886043613
rs886043613
FGFR3
0.925 0.080 4 1801519 missense variant C/T snv
CUI: C0544755
Disease: Genu varum
Genu varum 		0.700 0