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rs72552291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72552291(C;T)
Make rs72552291(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position32159096
GeneGPD1L
is asnp
is mentioned by
dbSNPrs72552291
ebirs72552291
HLIrs72552291
Exacrs72552291
Varsomers72552291
Maprs72552291
PheGenIrs72552291
hapmaprs72552291
1000 genomesrs72552291
hgdprs72552291
ensemblrs72552291
gopubmedrs72552291
geneviewrs72552291
scholarrs72552291
googlers72552291
pharmgkbrs72552291
gwascentralrs72552291
openSNPrs72552291
23andMers72552291
23andMe allrs72552291
SNP Nexus

SNPshotrs72552291
SNPdbers72552291
MSV3drs72552291
GWAS Ctlgrs72552291
GMAF0.0009183
Max Magnitude0
OMIM611778
Desc
Variant0001
Relatedalso
ClinVar
Risk rs72552291(T;T)
Alt rs72552291(T;T)
Reference rs72552291(C;C)
Significance Pathogenic
Disease Brugada syndrome 2 not provided Death in infancy
Variation info
Gene GPD1L
CLNDBN Brugada syndrome 2 not provided Death in infancy
Reversed 0
HGVS NC_000003.11:g.32200588C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000822.5, RCV000170923.3, RCV000234995.1,


[PMID 17967977OA-icon.png] Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.

GET Evidence
GPD1L-A280V
aa_change Ala280Val
aa_change_short A280V
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 9.2954e-05
summary