Gene: FRRS1L ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs933379958
rs933379958
FRRS1L
T 0.700 CausalMutation CLINVAR Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability. 30525197

2019
dbSNP: rs1054228594
rs1054228594
FRRS1L
A 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016
dbSNP: rs1054228594
rs1054228594
FRRS1L
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
FRRS1L
C 0.700 GeneticVariation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016
dbSNP: rs878853281
rs878853281
FRRS1L
T 0.700 CausalMutation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016
dbSNP: rs878853282
rs878853282
FRRS1L
A 0.700 GeneticVariation CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917

2016
dbSNP: rs1564232243
rs1564232243
FRRS1L
C 0.700 CausalMutation CLINVAR

dbSNP: rs779716535
rs779716535
FRRS1L
T 0.700 CausalMutation CLINVAR

dbSNP: rs878853280
rs878853280
FRRS1L
A 0.700 CausalMutation CLINVAR

dbSNP: rs878853282
rs878853282
FRRS1L
A 0.700 CausalMutation CLINVAR

dbSNP: rs878853283
rs878853283
FRRS1L
AT 0.700 CausalMutation CLINVAR