rs1555883505, EEF1A2

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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.160 20 63490712 missense variant G/A snv 0.700 1.000 10 2009 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
CUI: C4225337
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
9 0.827 0.160 20 63490712 missense variant G/A snv 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.160 20 63490712 missense variant G/A snv 0.700 1.000 1 2016 2016
Neurogenic Urinary Bladder
CUI: C0005697
Disease: Neurogenic Urinary Bladder
9 0.827 0.160 20 63490712 missense variant G/A snv 0.700 1.000 1 2016 2016
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.160 20 63490712 missense variant G/A snv 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.160 20 63490712 missense variant G/A snv 0.700 1.000 1 2016 2016
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.827 0.160 20 63490712 missense variant G/A snv 0.700 1.000 1 2016 2016
Urinary Retention
CUI: C0080274
Disease: Urinary Retention
4 0.827 0.160 20 63490712 missense variant G/A snv 0.700 1.000 1 2016 2016
Vesico-Ureteral Reflux
CUI: C0042580
Disease: Vesico-Ureteral Reflux
23 0.827 0.160 20 63490712 missense variant G/A snv 0.700 1.000 1 2016 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
CUI: C4225343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
4 0.827 0.160 20 63490712 missense variant G/A snv 0.700 0