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: rs587777162
rs587777162
EEF1A2
0.925 0.040 20 63495972 missense variant C/T snv
CUI: C4225337
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		0.800 1.000 2 2012 2017
dbSNP: rs587777162
rs587777162
EEF1A2
0.925 0.040 20 63495972 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 10 2009 2017
dbSNP: rs587777162
rs587777162
EEF1A2
0.925 0.040 20 63495972 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2012 2013