Source: ALL

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: rs121913113
rs121913113
FGFR3
0.882 0.240 4 1806076 missense variant G/A snv
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.800 1.000 1 2006 2006
dbSNP: rs121913113
rs121913113
FGFR3
0.882 0.240 4 1806076 missense variant G/A snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 1.000 2 2006 2016
dbSNP: rs121913113
rs121913113
FGFR3
0.882 0.240 4 1806076 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2008 2008