rs180843436
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs180843436(A;A) |
Make rs180843436(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 113360849 |
Gene | ANK2 |
is a | snp |
is | mentioned by |
dbSNP | rs180843436 |
dbSNP (classic) | rs180843436 |
ClinGen | rs180843436 |
ebi | rs180843436 |
HLI | rs180843436 |
Exac | rs180843436 |
Gnomad | rs180843436 |
Varsome | rs180843436 |
LitVar | rs180843436 |
Map | rs180843436 |
PheGenI | rs180843436 |
Biobank | rs180843436 |
1000 genomes | rs180843436 |
hgdp | rs180843436 |
ensembl | rs180843436 |
geneview | rs180843436 |
scholar | rs180843436 |
rs180843436 | |
pharmgkb | rs180843436 |
gwascentral | rs180843436 |
openSNP | rs180843436 |
23andMe | rs180843436 |
SNPshot | rs180843436 |
SNPdbe | rs180843436 |
MSV3d | rs180843436 |
GWAS Ctlg | rs180843436 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs180843436(A;A) |
Alt | rs180843436(A;A) |
Reference | Rs180843436(G;G) |
Significance | Probable-Pathogenic |
Disease | Congenital long QT syndrome Ventricular tachycardia not specified |
Variation | info |
Gene | ANK2 |
CLNDBN | Congenital long QT syndrome Ventricular tachycardia, catecholaminergic polymorphic, 1 not specified |
Reversed | 0 |
HGVS | NC_000004.11:g.114282005G>A |
CLNSRC | Cardiovascular Biomedical Research Unit ClinVar |
CLNACC | RCV000058340.3, RCV000143869.1, RCV000375362.1, |