rs121909281
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121909281(C;C) |
Make rs121909281(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 8733916 |
Gene | CAV3, SSUH2 |
is a | snp |
is | mentioned by |
dbSNP | rs121909281 |
dbSNP (classic) | rs121909281 |
ClinGen | rs121909281 |
ebi | rs121909281 |
HLI | rs121909281 |
Exac | rs121909281 |
Gnomad | rs121909281 |
Varsome | rs121909281 |
LitVar | rs121909281 |
Map | rs121909281 |
PheGenI | rs121909281 |
Biobank | rs121909281 |
1000 genomes | rs121909281 |
hgdp | rs121909281 |
ensembl | rs121909281 |
geneview | rs121909281 |
scholar | rs121909281 |
rs121909281 | |
pharmgkb | rs121909281 |
gwascentral | rs121909281 |
openSNP | rs121909281 |
23andMe | rs121909281 |
SNPshot | rs121909281 |
SNPdbe | rs121909281 |
MSV3d | rs121909281 |
GWAS Ctlg | rs121909281 |
GMAF | 0.001377 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121909281(A;A) rs121909281(C;C) |
Alt | rs121909281(A;A) rs121909281(C;C) |
Reference | Rs121909281(G;G) |
Significance | Pathogenic |
Disease | not specified Long QT syndrome Long QT syndrome 9 not provided |
Variation | info |
Gene | SSUH2 CAV3 |
CLNDBN | not specified Long QT syndrome Long QT syndrome 9 not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.8775602G>A; NC_000003.11:g.8775602G>C |
CLNSRC | Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000150234.2, RCV000460177.1, RCV000008793.2, RCV000024433.1, |
[PMID 17275750] Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.