rs121912705
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121912705(A;A) |
Make rs121912705(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 4 |
Position | 113367764 |
Gene | ANK2 |
is a | snp |
is | mentioned by |
dbSNP | rs121912705 |
dbSNP (classic) | rs121912705 |
ClinGen | rs121912705 |
ebi | rs121912705 |
HLI | rs121912705 |
Exac | rs121912705 |
Gnomad | rs121912705 |
Varsome | rs121912705 |
LitVar | rs121912705 |
Map | rs121912705 |
PheGenI | rs121912705 |
Biobank | rs121912705 |
1000 genomes | rs121912705 |
hgdp | rs121912705 |
ensembl | rs121912705 |
geneview | rs121912705 |
scholar | rs121912705 |
rs121912705 | |
pharmgkb | rs121912705 |
gwascentral | rs121912705 |
openSNP | rs121912705 |
23andMe | rs121912705 |
SNPshot | rs121912705 |
SNPdbe | rs121912705 |
MSV3d | rs121912705 |
GWAS Ctlg | rs121912705 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912705(A;A) |
Alt | rs121912705(A;A) |
Reference | Rs121912705(C;C) |
Significance | Other |
Disease | Cardiac arrhythmia Arrhythmia Cardiac arrhythmia Long QT syndrome not specified |
Variation | info |
Gene | ANK2 |
CLNDBN | Cardiac arrhythmia, ankyrin B-related Arrhythmia Cardiac arrhythmia Long QT syndrome not specified |
Reversed | 0 |
HGVS | NC_000004.11:g.114288920C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019674.28, RCV000058347.3, RCV000171749.3, RCV000204635.3, RCV000223796.3, |
[PMID 15178757] A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.