rs281865421
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACCCTG;ACCCTG) | 0 | common in clinvar |
Make rs281865421(ACCCTG;CCCCCT) |
Make rs281865421(CCCCCT;CCCCCT) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 34449458 |
Gene | KCNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs281865421 |
dbSNP (classic) | rs281865421 |
ClinGen | rs281865421 |
ebi | rs281865421 |
HLI | rs281865421 |
Exac | rs281865421 |
Gnomad | rs281865421 |
Varsome | rs281865421 |
LitVar | rs281865421 |
Map | rs281865421 |
PheGenI | rs281865421 |
Biobank | rs281865421 |
1000 genomes | rs281865421 |
hgdp | rs281865421 |
ensembl | rs281865421 |
geneview | rs281865421 |
scholar | rs281865421 |
rs281865421 | |
pharmgkb | rs281865421 |
gwascentral | rs281865421 |
openSNP | rs281865421 |
23andMe | rs281865421 |
SNPshot | rs281865421 |
SNPdbe | rs281865421 |
MSV3d | rs281865421 |
GWAS Ctlg | rs281865421 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865421(CCCCCT;CCCCCT) |
Alt | rs281865421(CCCCCT;CCCCCT) |
Reference | Rs281865421(ACCCTG;ACCCTG) |
Significance | Pathogenic |
Disease | Jervell and Lange-Nielsen syndrome 2 |
Variation | info |
Gene | KCNE1B KCNE1 |
CLNDBN | Jervell and Lange-Nielsen syndrome 2 |
Reversed | 1 |
HGVS | NC_000021.8:g.35821756_35821761delCAGGGTinsAGGGGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014417.25, |