GUF1, GUF1 homolog, GTPase, 60558

N. diseases: 13; N. variants: 1
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs879255631
rs879255631 		1.000 4 44695724 missense variant G/T snv 8.1E-06
CUI: C4310737
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 		0.700 1.000 1 2016 2016