rs199473360
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199473360(A;A) |
Make rs199473360(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 34449388 |
Gene | KCNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs199473360 |
dbSNP (classic) | rs199473360 |
ClinGen | rs199473360 |
ebi | rs199473360 |
HLI | rs199473360 |
Exac | rs199473360 |
Gnomad | rs199473360 |
Varsome | rs199473360 |
LitVar | rs199473360 |
Map | rs199473360 |
PheGenI | rs199473360 |
Biobank | rs199473360 |
1000 genomes | rs199473360 |
hgdp | rs199473360 |
ensembl | rs199473360 |
geneview | rs199473360 |
scholar | rs199473360 |
rs199473360 | |
pharmgkb | rs199473360 |
gwascentral | rs199473360 |
openSNP | rs199473360 |
23andMe | rs199473360 |
SNPshot | rs199473360 |
SNPdbe | rs199473360 |
MSV3d | rs199473360 |
GWAS Ctlg | rs199473360 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473360(A;A) |
Alt | rs199473360(A;A) |
Reference | Rs199473360(G;G) |
Significance | Untested |
Disease | Congenital long QT syndrome Cardiovascular phenotype not specified |
Variation | info |
Gene | KCNE1B KCNE1 |
CLNDBN | Congenital long QT syndrome Cardiovascular phenotype not specified |
Reversed | 1 |
HGVS | NC_000021.8:g.35821686C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000119085.2, RCV000250531.1, RCV000454805.1, |