rs750371878, HACE1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES
CUI: C4225215
Disease: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES
9 0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0