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: rs56240927
rs56240927
FGFR3
1.000 0.080 4 1804906 missense variant C/T snv 1.3E-03 8.2E-04
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		0.010 1.000 1 2019 2019