rs116840794
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs116840794(A;G) |
Make rs116840794(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 8745568 |
Gene | CAV3, SSUH2 |
is a | snp |
is | mentioned by |
dbSNP | rs116840794 |
dbSNP (classic) | rs116840794 |
ClinGen | rs116840794 |
ebi | rs116840794 |
HLI | rs116840794 |
Exac | rs116840794 |
Gnomad | rs116840794 |
Varsome | rs116840794 |
LitVar | rs116840794 |
Map | rs116840794 |
PheGenI | rs116840794 |
Biobank | rs116840794 |
1000 genomes | rs116840794 |
hgdp | rs116840794 |
ensembl | rs116840794 |
geneview | rs116840794 |
scholar | rs116840794 |
rs116840794 | |
pharmgkb | rs116840794 |
gwascentral | rs116840794 |
openSNP | rs116840794 |
23andMe | rs116840794 |
SNPshot | rs116840794 |
SNPdbe | rs116840794 |
MSV3d | rs116840794 |
GWAS Ctlg | rs116840794 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116840794(G;G) |
Alt | rs116840794(G;G) |
Reference | Rs116840794(A;A) |
Significance | Untested |
Disease | not provided |
Variation | info |
Gene | SSUH2 CAV3 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.8787254A>G |
CLNSRC | Leiden Muscular Dystrophy pages (CAV3) UniProtKB (protein) |
CLNACC | RCV000024419.1, |
[PMID 16458928] A new missense mutation in caveolin-3 gene causes rippling muscle disease.