rs397515637
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CAGTAC;CAGTAC) | 0 | common in clinvar |
Make rs397515637(CAGTAC;GTTGAGA) |
Make rs397515637(GTTGAGA;GTTGAGA) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2775999 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs397515637 |
dbSNP (classic) | rs397515637 |
ClinGen | rs397515637 |
ebi | rs397515637 |
HLI | rs397515637 |
Exac | rs397515637 |
Gnomad | rs397515637 |
Varsome | rs397515637 |
LitVar | rs397515637 |
Map | rs397515637 |
PheGenI | rs397515637 |
Biobank | rs397515637 |
1000 genomes | rs397515637 |
hgdp | rs397515637 |
ensembl | rs397515637 |
geneview | rs397515637 |
scholar | rs397515637 |
rs397515637 | |
pharmgkb | rs397515637 |
gwascentral | rs397515637 |
openSNP | rs397515637 |
23andMe | rs397515637 |
SNPshot | rs397515637 |
SNPdbe | rs397515637 |
MSV3d | rs397515637 |
GWAS Ctlg | rs397515637 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515637(GTTGAGA;GTTGAGA) |
Alt | rs397515637(GTTGAGA;GTTGAGA) |
Reference | Rs397515637(CAGTAC;CAGTAC) |
Significance | Pathogenic |
Disease | Jervell and Lange-Nielsen syndrome 1 |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Jervell and Lange-Nielsen syndrome 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.2797229_2797234delCAGTACinsGTTGAGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003272.2, |