rs397508120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397508120(-;-) |
Make rs397508120(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2570735 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs397508120 |
dbSNP (classic) | rs397508120 |
ClinGen | rs397508120 |
ebi | rs397508120 |
HLI | rs397508120 |
Exac | rs397508120 |
Gnomad | rs397508120 |
Varsome | rs397508120 |
LitVar | rs397508120 |
Map | rs397508120 |
PheGenI | rs397508120 |
Biobank | rs397508120 |
1000 genomes | rs397508120 |
hgdp | rs397508120 |
ensembl | rs397508120 |
geneview | rs397508120 |
scholar | rs397508120 |
rs397508120 | |
pharmgkb | rs397508120 |
gwascentral | rs397508120 |
openSNP | rs397508120 |
23andMe | rs397508120 |
SNPshot | rs397508120 |
SNPdbe | rs397508120 |
MSV3d | rs397508120 |
GWAS Ctlg | rs397508120 |
Merged from | Rs863224477 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs397508120(G;G) |
Significance | Pathogenic |
Disease | Jervell and Lange-Nielsen syndrome 1 Cardiac arrhythmia |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Jervell and Lange-Nielsen syndrome 1 Cardiac arrhythmia |
Reversed | 0 |
HGVS | NC_000011.9:g.2591965delG |
CLNSRC | ClinVar |
CLNACC | RCV000046095.2, RCV000182269.1, |