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: rs121913114
rs121913114
FGFR3
0.925 0.120 4 1801930 missense variant A/G;T snv 4.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.700 0
dbSNP: rs121913114
rs121913114
FGFR3
0.925 0.120 4 1801930 missense variant A/G;T snv 4.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.700 0