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rs72552294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72552294(C;T)
Make rs72552294(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position32159074
GeneGPD1L
is asnp
is mentioned by
dbSNPrs72552294
ebirs72552294
HLIrs72552294
Exacrs72552294
Varsomers72552294
Maprs72552294
PheGenIrs72552294
hapmaprs72552294
1000 genomesrs72552294
hgdprs72552294
ensemblrs72552294
gopubmedrs72552294
geneviewrs72552294
scholarrs72552294
googlers72552294
pharmgkbrs72552294
gwascentralrs72552294
openSNPrs72552294
23andMers72552294
23andMe allrs72552294
SNP Nexus

SNPshotrs72552294
SNPdbers72552294
MSV3drs72552294
GWAS Ctlgrs72552294
Max Magnitude0
OMIM611778
Desc
Variant0004
Relatedalso
ClinVar
Risk rs72552294(T;T)
Alt rs72552294(T;T)
Reference rs72552294(C;C)
Significance Pathogenic
Disease Brugada syndrome 2 not specified
Variation info
Gene GPD1L
CLNDBN Brugada syndrome 2 not specified
Reversed 0
HGVS NC_000003.11:g.32200566C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000825.2, RCV000170922.3,


[PMID 17967976OA-icon.png] Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.