PHACTR1, phosphatase and actin regulator 1, 221692

N. diseases: 59; N. variants: 28
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 ×
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: rs748743403
rs748743403 		1.000 6 13283473 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C4749023
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		0.800 0
dbSNP: rs1562103192
rs1562103192 		1.000 6 13272904 missense variant A/T snv
CUI: C4749023
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		0.700 0
dbSNP: rs1562114406
rs1562114406 		1.000 6 13278319 missense variant T/C snv
CUI: C4749023
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 		0.700 0