rs786205866, EEF1A2

N. diseases: 7
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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
CUI: C4225343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
4 0.807 0.160 20 63495062 missense variant C/T snv 0.800 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.807 0.160 20 63495062 missense variant C/T snv 0.700 1.000 10 2009 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
CUI: C4225337
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
9 0.807 0.160 20 63495062 missense variant C/T snv 0.700 1.000 4 1988 2016
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.807 0.160 20 63495062 missense variant C/T snv 0.010 1.000 1 2020 2020
Failure to Thrive
CUI: C0015544
Disease: Failure to Thrive
10 0.807 0.160 20 63495062 missense variant C/T snv 0.010 1.000 1 2020 2020
Failure to thrive in infant
CUI: C3887638
Disease: Failure to thrive in infant
4 0.807 0.160 20 63495062 missense variant C/T snv 0.010 1.000 1 2020 2020
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.807 0.160 20 63495062 missense variant C/T snv 0.010 1.000 1 2020 2020