Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786205157
rs786205157
AARS1
1.000 16 70277057 missense variant T/G snv 7.0E-06
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.800 0
dbSNP: rs369774476
rs369774476
AARS1 ; EXOSC6
1.000 16 70252890 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 1.000 2 2015 2017
dbSNP: rs143370729
rs143370729
AARS1
1.000 16 70255763 missense variant T/C snv 4.8E-05 4.2E-05
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 0