Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA ×
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: rs587777578
rs587777578 		1.000 17 6687641 missense variant A/G snv
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.800 1.000 2 2014 2015
dbSNP: rs863225448
rs863225448 		1.000 17 6687534 missense variant C/G snv
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.800 1.000 2 2014 2015
dbSNP: rs548065551
rs548065551 		1.000 17 6690936 missense variant G/A snv 4.1E-06 7.0E-06
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.800 0
dbSNP: rs1057519449
rs1057519449 		1.000 17 6687629 missense variant A/G snv
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.700 1.000 2 2016 2017
dbSNP: rs863225447
rs863225447 		1.000 17 6693101 frameshift variant -/ACTTTCTCCTG delins
CUI: C4014621
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 		0.700 0