rs869312702, CIZ1;DNM1

N. diseases: 10
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.
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
13 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
Speech Delay
CUI: C0241210
Disease: Speech Delay
11 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0
Stereotypic Movement Disorder
CUI: C0038273
Disease: Stereotypic Movement Disorder
26 0.827 0.160 9 128203609 missense variant G/A snv 0.700 0