rs121908441
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908441(A;A) |
Make rs121908441(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 74457268 |
Gene | KCNE3 |
is a | snp |
is | mentioned by |
dbSNP | rs121908441 |
dbSNP (classic) | rs121908441 |
ClinGen | rs121908441 |
ebi | rs121908441 |
HLI | rs121908441 |
Exac | rs121908441 |
Gnomad | rs121908441 |
Varsome | rs121908441 |
LitVar | rs121908441 |
Map | rs121908441 |
PheGenI | rs121908441 |
Biobank | rs121908441 |
1000 genomes | rs121908441 |
hgdp | rs121908441 |
ensembl | rs121908441 |
geneview | rs121908441 |
scholar | rs121908441 |
rs121908441 | |
pharmgkb | rs121908441 |
gwascentral | rs121908441 |
openSNP | rs121908441 |
23andMe | rs121908441 |
SNPshot | rs121908441 |
SNPdbe | rs121908441 |
MSV3d | rs121908441 |
GWAS Ctlg | rs121908441 |
GMAF | 0.001377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908441(A;A) |
Alt | rs121908441(A;A) |
Reference | Rs121908441(G;G) |
Significance | Pathogenic |
Disease | Brugada syndrome 6 not provided Brugada syndrome |
Variation | info |
Gene | KCNE3 |
CLNDBN | Brugada syndrome 6 not provided Brugada syndrome |
Reversed | 1 |
HGVS | NC_000011.9:g.74168313C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005880.4, RCV000170965.3, RCV000171754.1, |