rs864622292
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CCA;CCA) | 0 | common in clinvar |
Make rs864622292(CCA;TTT) |
Make rs864622292(TTT;TTT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 70175446 |
Gene | KCNJ2 |
is a | snp |
is | mentioned by |
dbSNP | rs864622292 |
dbSNP (classic) | rs864622292 |
ClinGen | rs864622292 |
ebi | rs864622292 |
HLI | rs864622292 |
Exac | rs864622292 |
Gnomad | rs864622292 |
Varsome | rs864622292 |
LitVar | rs864622292 |
Map | rs864622292 |
PheGenI | rs864622292 |
Biobank | rs864622292 |
1000 genomes | rs864622292 |
hgdp | rs864622292 |
ensembl | rs864622292 |
geneview | rs864622292 |
scholar | rs864622292 |
rs864622292 | |
pharmgkb | rs864622292 |
gwascentral | rs864622292 |
openSNP | rs864622292 |
23andMe | rs864622292 |
SNPshot | rs864622292 |
SNPdbe | rs864622292 |
MSV3d | rs864622292 |
GWAS Ctlg | rs864622292 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622292(TTT;TTT) |
Alt | rs864622292(TTT;TTT) |
Reference | Rs864622292(CCA;CCA) |
Significance | Probable-Pathogenic |
Disease | Andersen Tawil syndrome |
Variation | info |
Gene | KCNJ2 |
CLNDBN | Andersen Tawil syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.68171587_68171589delCCAinsTTT |
CLNSRC | |
CLNACC | RCV000206325.3, |