rs199473343
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199473343(A;A) |
Make rs199473343(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 113353581 |
Gene | ANK2 |
is a | snp |
is | mentioned by |
dbSNP | rs199473343 |
dbSNP (classic) | rs199473343 |
ClinGen | rs199473343 |
ebi | rs199473343 |
HLI | rs199473343 |
Exac | rs199473343 |
Gnomad | rs199473343 |
Varsome | rs199473343 |
LitVar | rs199473343 |
Map | rs199473343 |
PheGenI | rs199473343 |
Biobank | rs199473343 |
1000 genomes | rs199473343 |
hgdp | rs199473343 |
ensembl | rs199473343 |
geneview | rs199473343 |
scholar | rs199473343 |
rs199473343 | |
pharmgkb | rs199473343 |
gwascentral | rs199473343 |
openSNP | rs199473343 |
23andMe | rs199473343 |
SNPshot | rs199473343 |
SNPdbe | rs199473343 |
MSV3d | rs199473343 |
GWAS Ctlg | rs199473343 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473343(A;A) |
Alt | rs199473343(A;A) |
Reference | Rs199473343(C;C) |
Significance | Untested |
Disease | Congenital long QT syndrome |
Variation | info |
Gene | ANK2 |
CLNDBN | Congenital long QT syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.114274737C>A |
CLNSRC | Cardiovascular Biomedical Research Unit ClinVar |
CLNACC | RCV000058357.3, |