rs886044587
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCAGAAGA;GCAGAAGA) | 0 | common in clinvar |
Chromosome | 3 |
Position | 8733886 |
Gene | CAV3, SSUH2 |
is a | snp |
is | mentioned by |
dbSNP | rs886044587 |
dbSNP (classic) | rs886044587 |
ClinGen | rs886044587 |
ebi | rs886044587 |
HLI | rs886044587 |
Exac | rs886044587 |
Gnomad | rs886044587 |
Varsome | rs886044587 |
LitVar | rs886044587 |
Map | rs886044587 |
PheGenI | rs886044587 |
Biobank | rs886044587 |
1000 genomes | rs886044587 |
hgdp | rs886044587 |
ensembl | rs886044587 |
geneview | rs886044587 |
scholar | rs886044587 |
rs886044587 | |
pharmgkb | rs886044587 |
gwascentral | rs886044587 |
openSNP | rs886044587 |
23andMe | rs886044587 |
SNPshot | rs886044587 |
SNPdbe | rs886044587 |
MSV3d | rs886044587 |
GWAS Ctlg | rs886044587 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886044587(-;-) |
Alt | rs886044587(-;-) |
Reference | Rs886044587(GCAGAAGA;GCAGAAGA) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy Long QT syndrome |
Variation | info |
Gene | SSUH2 CAV3 |
CLNDBN | Limb-girdle muscular dystrophy, type 1C Long QT syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.8775572_8775579delGAAGAGCA |
CLNSRC | |
CLNACC | RCV000381159.1, RCV000465696.1, |