rs397508122
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397508122(A;A) |
Make rs397508122(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 2571408 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508122 |
dbSNP (classic) | rs397508122 |
ClinGen | rs397508122 |
ebi | rs397508122 |
HLI | rs397508122 |
Exac | rs397508122 |
Gnomad | rs397508122 |
Varsome | rs397508122 |
LitVar | rs397508122 |
Map | rs397508122 |
PheGenI | rs397508122 |
Biobank | rs397508122 |
1000 genomes | rs397508122 |
hgdp | rs397508122 |
ensembl | rs397508122 |
geneview | rs397508122 |
scholar | rs397508122 |
rs397508122 | |
pharmgkb | rs397508122 |
gwascentral | rs397508122 |
openSNP | rs397508122 |
23andMe | rs397508122 |
SNPshot | rs397508122 |
SNPdbe | rs397508122 |
MSV3d | rs397508122 |
GWAS Ctlg | rs397508122 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397508122(A;A) |
Alt | rs397508122(A;A) |
Reference | Rs397508122(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome, LQT1 subtype not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2592638G>A |
CLNSRC | |
CLNACC | RCV000046104.2, RCV000182098.2, |