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: rs750371878
rs750371878
HACE1
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C4225215
Disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES
SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES 		0.700 0
dbSNP: rs750371878
rs750371878
HACE1
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs750371878
rs750371878
HACE1
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs750371878
rs750371878
HACE1
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0