rs142511345
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs142511345(A;A) |
Make rs142511345(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 34449261 |
Gene | KCNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs142511345 |
dbSNP (classic) | rs142511345 |
ClinGen | rs142511345 |
ebi | rs142511345 |
HLI | rs142511345 |
Exac | rs142511345 |
Gnomad | rs142511345 |
Varsome | rs142511345 |
LitVar | rs142511345 |
Map | rs142511345 |
PheGenI | rs142511345 |
Biobank | rs142511345 |
1000 genomes | rs142511345 |
hgdp | rs142511345 |
ensembl | rs142511345 |
geneview | rs142511345 |
scholar | rs142511345 |
rs142511345 | |
pharmgkb | rs142511345 |
gwascentral | rs142511345 |
openSNP | rs142511345 |
23andMe | rs142511345 |
SNPshot | rs142511345 |
SNPdbe | rs142511345 |
MSV3d | rs142511345 |
GWAS Ctlg | rs142511345 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142511345(A;A) |
Alt | rs142511345(A;A) |
Reference | Rs142511345(G;G) |
Significance | Other |
Disease | Congenital long QT syndrome Long QT syndrome not specified Jervell and Lange-Nielsen syndrome Romano-Ward syndrome |
Variation | info |
Gene | KCNE1B KCNE1 |
CLNDBN | Congenital long QT syndrome Long QT syndrome not specified Jervell and Lange-Nielsen syndrome Romano-Ward syndrome |
Reversed | 0 |
HGVS | NC_000021.8:g.35821559G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000119091.2, RCV000148513.2, RCV000150856.1, RCV000321437.1, RCV000376098.1, |