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: rs114632254
rs114632254
EDARADD
1.000 1 236482309 missense variant C/T snv 2.1E-02 2.1E-02
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2018 2018