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: rs80053154
rs80053154
FGFR3
0.925 0.120 4 1805636 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.730 1.000 3 1998 2017
dbSNP: rs80053154
rs80053154
FGFR3
0.925 0.120 4 1805636 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 1.000 1 1998 1998