rs72552291

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs72552291(C;T)

Make rs72552291(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

32159096

Gene

GPD1L

is a	snp
is	mentioned by
dbSNP	rs72552291
dbSNP (classic)	rs72552291
ClinGen	rs72552291
ebi	rs72552291
HLI	rs72552291
Exac	rs72552291
Gnomad	rs72552291
Varsome	rs72552291
LitVar	rs72552291
Map	rs72552291
PheGenI	rs72552291
Biobank	rs72552291
1000 genomes	rs72552291
hgdp	rs72552291
ensembl	rs72552291
geneview	rs72552291
scholar	rs72552291
google	rs72552291
pharmgkb	rs72552291
gwascentral	rs72552291
openSNP	rs72552291
23andMe	rs72552291
SNPshot	rs72552291
SNPdbe	rs72552291
MSV3d	rs72552291
GWAS Ctlg	rs72552291

GMAF

0.0009183

Max Magnitude

0

OMIM	611778
Desc
Variant	0001
Related	also

ClinVar
Risk	rs72552291(T;T)
Alt	rs72552291(T;T)
Reference	Rs72552291(C;C)
Significance	Pathogenic
Disease	Brugada syndrome 2 not provided Death in infancy Cardiovascular phenotype
Variation	info
Gene	GPD1L
CLNDBN	Brugada syndrome 2 not provided Death in infancy Cardiovascular phenotype
Reversed	0
HGVS	NC_000003.11:g.32200588C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000822.5, RCV000170923.4, RCV000234995.1, RCV000244771.1,

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