rs886042546
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Chromosome | 4 |
Position | 52028779 |
Gene | SGCB |
is a | snp |
is | mentioned by |
dbSNP | rs886042546 |
dbSNP (classic) | rs886042546 |
ClinGen | rs886042546 |
ebi | rs886042546 |
HLI | rs886042546 |
Exac | rs886042546 |
Gnomad | rs886042546 |
Varsome | rs886042546 |
LitVar | rs886042546 |
Map | rs886042546 |
PheGenI | rs886042546 |
Biobank | rs886042546 |
1000 genomes | rs886042546 |
hgdp | rs886042546 |
ensembl | rs886042546 |
geneview | rs886042546 |
scholar | rs886042546 |
rs886042546 | |
pharmgkb | rs886042546 |
gwascentral | rs886042546 |
openSNP | rs886042546 |
23andMe | rs886042546 |
SNPshot | rs886042546 |
SNPdbe | rs886042546 |
MSV3d | rs886042546 |
GWAS Ctlg | rs886042546 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042546(-;-) |
Alt | rs886042546(-;-) |
Reference | Rs886042546(A;A) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | SGCB |
CLNDBN | Limb-girdle muscular dystrophy, type 2E |
Reversed | 0 |
HGVS | NC_000004.11:g.52894945delA |
CLNSRC | |
CLNACC | RCV000265848.1, |