rs72552291
From SNPedia
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 |
rs72552291 | |
pharmgkb | rs72552291 |
gwascentral | rs72552291 |
openSNP | rs72552291 |
23andMe | rs72552291 |
SNPshot | rs72552291 |
SNPdbe | rs72552291 |
MSV3d | rs72552291 |
GWAS Ctlg | rs72552291 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
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.