rs35530544
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs35530544(A;A) |
Make rs35530544(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 113367751 |
Gene | ANK2 |
is a | snp |
is | mentioned by |
dbSNP | rs35530544 |
dbSNP (classic) | rs35530544 |
ClinGen | rs35530544 |
ebi | rs35530544 |
HLI | rs35530544 |
Exac | rs35530544 |
Gnomad | rs35530544 |
Varsome | rs35530544 |
LitVar | rs35530544 |
Map | rs35530544 |
PheGenI | rs35530544 |
Biobank | rs35530544 |
1000 genomes | rs35530544 |
hgdp | rs35530544 |
ensembl | rs35530544 |
geneview | rs35530544 |
scholar | rs35530544 |
rs35530544 | |
pharmgkb | rs35530544 |
gwascentral | rs35530544 |
openSNP | rs35530544 |
23andMe | rs35530544 |
SNPshot | rs35530544 |
SNPdbe | rs35530544 |
MSV3d | rs35530544 |
GWAS Ctlg | rs35530544 |
GMAF | 0.008724 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35530544(A;A) |
Alt | rs35530544(A;A) |
Reference | Rs35530544(C;C) |
Significance | Other |
Disease | Cardiac arrhythmia not provided Cardiac arrhythmia Long QT syndrome Cardiovascular phenotype |
Variation | info |
Gene | ANK2 |
CLNDBN | Cardiac arrhythmia, ankyrin B-related not provided Cardiac arrhythmia Long QT syndrome Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000004.11:g.114288907C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019675.23, RCV000058346.3, RCV000171797.1, RCV000227575.3, RCV000242138.1, |
[PMID 15178757] A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.