rs752982710
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs752982710(-;-) |
Make rs752982710(-;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 22279543 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs752982710 |
dbSNP (classic) | rs752982710 |
ClinGen | rs752982710 |
ebi | rs752982710 |
HLI | rs752982710 |
Exac | rs752982710 |
Gnomad | rs752982710 |
Varsome | rs752982710 |
LitVar | rs752982710 |
Map | rs752982710 |
PheGenI | rs752982710 |
Biobank | rs752982710 |
1000 genomes | rs752982710 |
hgdp | rs752982710 |
ensembl | rs752982710 |
geneview | rs752982710 |
scholar | rs752982710 |
rs752982710 | |
pharmgkb | rs752982710 |
gwascentral | rs752982710 |
openSNP | rs752982710 |
23andMe | rs752982710 |
SNPshot | rs752982710 |
SNPdbe | rs752982710 |
MSV3d | rs752982710 |
GWAS Ctlg | rs752982710 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752982710(-;-) |
Alt | rs752982710(-;-) |
Reference | Rs752982710(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.22301089delG |
CLNSRC | |
CLNACC | RCV000405726.1, |