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: rs75790268
rs75790268
FGFR3
0.925 0.120 4 1804377 missense variant G/T snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.850 1.000 10 1994 2012
dbSNP: rs75790268
rs75790268
FGFR3
0.925 0.120 4 1804377 missense variant G/T snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.020 1.000 2 1999 2012