FRRS1L, ferric chelate reductase 1 like, 23732

N. diseases: 60; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs933379958
rs933379958
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C4310770
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		T 0.700 CausalMutation CLINVAR Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability. 30525197 2019
dbSNP: rs1054228594
rs1054228594
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C4310770
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs1054228594
rs1054228594
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C4310770
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		A 0.700 CausalMutation CLINVAR Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L. 27239025 2016
dbSNP: rs1564229228
rs1564229228
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C4310770
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		C 0.700 GeneticVariation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853280
rs878853280
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C1838578
Disease:
Progressive encephalopathy 		A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853280
rs878853280
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C0036572
Disease:
Seizures 		A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853280
rs878853280
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C0008489
Disease:
Chorea 		A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853281
rs878853281
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C4310770
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		T 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853281
rs878853281
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C1838578
Disease:
Progressive encephalopathy 		T 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853281
rs878853281
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C0036572
Disease:
Seizures 		T 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853281
rs878853281
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C0008489
Disease:
Chorea 		T 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853282
rs878853282
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C0008489
Disease:
Chorea 		A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853282
rs878853282
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C0036572
Disease:
Seizures 		A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853282
rs878853282
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C4310770
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		A 0.700 GeneticVariation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853282
rs878853282
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C1838578
Disease:
Progressive encephalopathy 		A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853283
rs878853283
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C1838578
Disease:
Progressive encephalopathy 		AT 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853283
rs878853283
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C0008489
Disease:
Chorea 		AT 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs878853283
rs878853283
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C0036572
Disease:
Seizures 		AT 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
dbSNP: rs1564232243
rs1564232243
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C4310770
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		C 0.700 CausalMutation CLINVAR
dbSNP: rs779716535
rs779716535
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C4310770
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		T 0.700 CausalMutation CLINVAR
dbSNP: rs878853280
rs878853280
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C4310770
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		A 0.700 CausalMutation CLINVAR
dbSNP: rs878853282
rs878853282
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C4310770
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		A 0.700 CausalMutation CLINVAR
dbSNP: rs878853283
rs878853283
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
CUI: C4310770
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		AT 0.700 CausalMutation CLINVAR