Source: CLINVAR

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: rs1565706229
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.700 0