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: rs1292564852
rs1292564852
FGFR3
1.000 4 1805414 missense variant C/T snv 7.0E-06
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2019 2019