DOCK7, dedicator of cytokinesis 7, 85440

N. diseases: 51; N. variants: 192
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 ×
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: rs1057520100
rs1057520100 		1.000 1 62625399 stop gained G/A;T snv 4.3E-06; 4.3E-06
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs1553156203
rs1553156203 		1.000 1 62496479 frameshift variant T/- delins
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs1557855477
rs1557855477 		1.000 1 62647726 frameshift variant A/- delins
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs1557864817
rs1557864817 		1.000 1 62654109 frameshift variant AATGA/T delins
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs587777484
rs587777484 		1.000 1 62529349 stop gained G/A snv
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs587777485
rs587777485 		1.000 1 62457653 stop gained C/A snv 7.0E-06
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs886037665
rs886037665 		1.000 1 62555911 frameshift variant T/- del
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0
dbSNP: rs886037666
rs886037666 		1.000 1 62634825 stop gained G/C snv
CUI: C4014492
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 		0.700 0