DNM1, dynamin 1, 1759

N. diseases: 114; N. variants: 19
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 ×
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: rs587777860
rs587777860 		1.000 9 128219192 missense variant G/A;C snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.800 1.000 3 2014 2016
dbSNP: rs587777861
rs587777861 		1.000 9 128220016 missense variant G/C snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.800 1.000 3 2014 2016
dbSNP: rs587777862
rs587777862 		1.000 9 128222544 missense variant G/C snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.800 1.000 3 2014 2016
dbSNP: rs760270633
rs760270633 		0.925 0.040 9 128220201 missense variant C/T snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.800 1.000 3 2014 2016
dbSNP: rs1554774587
rs1554774587 		1.000 9 128222543 missense variant G/A snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 1.000 2 2014 2017
dbSNP: rs1554772959
rs1554772959 		1.000 9 128219106 missense variant A/G snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 1.000 1 2016 2016
dbSNP: rs1057518655
rs1057518655 		1.000 9 128219127 protein altering variant -/GAT delins
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0
dbSNP: rs1554772945
rs1554772945 		1.000 9 128219105 missense variant C/A snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0
dbSNP: rs1554774401
rs1554774401 		1.000 9 128222212 missense variant A/T snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0
dbSNP: rs1554774575
rs1554774575 		1.000 9 128222504 missense variant G/A snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0
dbSNP: rs1554781553
rs1554781553 		1.000 9 128242289 missense variant A/G snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0
dbSNP: rs1564332930
rs1564332930 		1.000 9 128222557 inframe insertion -/TTCCAC delins
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0
dbSNP: rs869312702
rs869312702 		0.827 0.160 9 128203609 missense variant G/A snv
CUI: C4225357
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 		0.700 0