FRRS1L, ferric chelate reductase 1 like, 23732

N. diseases: 60; N. variants: 9
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 ×
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: rs1054228594
rs1054228594 		1.000 9 109137616 stop gained G/A snv
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.700 1.000 2 2016 2016
dbSNP: rs1564229228
rs1564229228 		1.000 9 109141591 splice acceptor variant T/C snv
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.700 1.000 1 2016 2016
dbSNP: rs878853281
rs878853281 		1.000 9 109141360 stop gained C/T snv 4.0E-06
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.700 1.000 1 2016 2016
dbSNP: rs878853282
rs878853282 		1.000 9 109141466 inframe deletion CCT/- delins 2.0E-05 2.7E-04
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.700 1.000 1 2016 2016
dbSNP: rs933379958
rs933379958 		1.000 9 109166994 frameshift variant C/-;CC delins 1.4E-05
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.700 1.000 1 2019 2019
dbSNP: rs1564232243
rs1564232243 		1.000 9 109149658 frameshift variant CA/- delins
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.700 0
dbSNP: rs779716535
rs779716535 		1.000 9 109141566 stop gained G/A;T snv 4.4E-05; 8.0E-06
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.700 0
dbSNP: rs878853280
rs878853280 		1.000 9 109137529 stop gained G/A snv
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.700 0
dbSNP: rs878853283
rs878853283 		1.000 9 109149675 frameshift variant -/T delins
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.700 0