rs199473383
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199473383(A;A) |
Make rs199473383(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 70175683 |
Gene | KCNJ2 |
is a | snp |
is | mentioned by |
dbSNP | rs199473383 |
dbSNP (classic) | rs199473383 |
ClinGen | rs199473383 |
ebi | rs199473383 |
HLI | rs199473383 |
Exac | rs199473383 |
Gnomad | rs199473383 |
Varsome | rs199473383 |
LitVar | rs199473383 |
Map | rs199473383 |
PheGenI | rs199473383 |
Biobank | rs199473383 |
1000 genomes | rs199473383 |
hgdp | rs199473383 |
ensembl | rs199473383 |
geneview | rs199473383 |
scholar | rs199473383 |
rs199473383 | |
pharmgkb | rs199473383 |
gwascentral | rs199473383 |
openSNP | rs199473383 |
23andMe | rs199473383 |
SNPshot | rs199473383 |
SNPdbe | rs199473383 |
MSV3d | rs199473383 |
GWAS Ctlg | rs199473383 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473383(A;A) |
Alt | rs199473383(A;A) |
Reference | Rs199473383(G;G) |
Significance | Pathogenic |
Disease | Congenital long QT syndrome Andersen Tawil syndrome |
Variation | info |
Gene | KCNJ2 |
CLNDBN | Congenital long QT syndrome Andersen Tawil syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.68171824G>A |
CLNSRC | ClinVar |
CLNACC | RCV000058323.3, RCV000458761.1, |