rs878854367
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs878854367(-;-) |
Make rs878854367(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 22226041 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs878854367 |
dbSNP (classic) | rs878854367 |
ClinGen | rs878854367 |
ebi | rs878854367 |
HLI | rs878854367 |
Exac | rs878854367 |
Gnomad | rs878854367 |
Varsome | rs878854367 |
LitVar | rs878854367 |
Map | rs878854367 |
PheGenI | rs878854367 |
Biobank | rs878854367 |
1000 genomes | rs878854367 |
hgdp | rs878854367 |
ensembl | rs878854367 |
geneview | rs878854367 |
scholar | rs878854367 |
rs878854367 | |
pharmgkb | rs878854367 |
gwascentral | rs878854367 |
openSNP | rs878854367 |
23andMe | rs878854367 |
SNPshot | rs878854367 |
SNPdbe | rs878854367 |
MSV3d | rs878854367 |
GWAS Ctlg | rs878854367 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs878854367(-;-) |
Alt | rs878854367(-;-) |
Reference | Rs878854367(G;G) |
Significance | Probable-Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | ANO5 |
CLNDBN | Limb-girdle muscular dystrophy, type 2L |
Reversed | 0 |
HGVS | NC_000011.9:g.22247587delG |
CLNSRC | |
CLNACC | RCV000233000.1, |