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rs72552292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72552292(A;A)
Make rs72552292(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position32138608
GeneGPD1L
is asnp
is mentioned by
dbSNPrs72552292
ebirs72552292
HLIrs72552292
Exacrs72552292
Varsomers72552292
Maprs72552292
PheGenIrs72552292
hapmaprs72552292
1000 genomesrs72552292
hgdprs72552292
ensemblrs72552292
gopubmedrs72552292
geneviewrs72552292
scholarrs72552292
googlers72552292
pharmgkbrs72552292
gwascentralrs72552292
openSNPrs72552292
23andMers72552292
23andMe allrs72552292
SNP Nexus

SNPshotrs72552292
SNPdbers72552292
MSV3drs72552292
GWAS Ctlgrs72552292
GMAF0.0004591
Max Magnitude0
OMIM611778
Desc
Variant0002
Relatedalso
ClinVar
Risk rs72552292(A;A)
Alt rs72552292(A;A)
Reference rs72552292(G;G)
Significance Pathogenic
Disease Brugada syndrome 2
Variation info
Gene GPD1L
CLNDBN Brugada syndrome 2
Reversed 0
HGVS NC_000003.11:g.32180100G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000823.3,


[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.