rs28936685
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs28936685(C;C) |
Make rs28936685(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 8745671 |
Gene | CAV3, SSUH2 |
is a | snp |
is | mentioned by |
dbSNP | rs28936685 |
dbSNP (classic) | rs28936685 |
ClinGen | rs28936685 |
ebi | rs28936685 |
HLI | rs28936685 |
Exac | rs28936685 |
Gnomad | rs28936685 |
Varsome | rs28936685 |
LitVar | rs28936685 |
Map | rs28936685 |
PheGenI | rs28936685 |
Biobank | rs28936685 |
1000 genomes | rs28936685 |
hgdp | rs28936685 |
ensembl | rs28936685 |
geneview | rs28936685 |
scholar | rs28936685 |
rs28936685 | |
pharmgkb | rs28936685 |
gwascentral | rs28936685 |
openSNP | rs28936685 |
23andMe | rs28936685 |
SNPshot | rs28936685 |
SNPdbe | rs28936685 |
MSV3d | rs28936685 |
GWAS Ctlg | rs28936685 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28936685(A;A) rs28936685(C;C) |
Alt | rs28936685(A;A) rs28936685(C;C) |
Reference | Rs28936685(T;T) |
Significance | Pathogenic |
Disease | Rippling muscle disease 2 not provided Long QT syndrome |
Variation | info |
Gene | SSUH2 CAV3 |
CLNDBN | Rippling muscle disease 2 not provided Long QT syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.8787357T>C |
CLNSRC | Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008779.3, RCV000024387.1, RCV000458893.1, |
[PMID 12666119] Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.