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: rs28928868
rs28928868
FGFR3
0.925 0.120 4 1806164 missense variant G/C;T snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 1.000 4 2000 2010
dbSNP: rs28928868
rs28928868
FGFR3
0.925 0.120 4 1806164 missense variant G/C;T snv 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0