rs566415362
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs566415362(C;G) |
Make rs566415362(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 22255400 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs566415362 |
dbSNP (classic) | rs566415362 |
ClinGen | rs566415362 |
ebi | rs566415362 |
HLI | rs566415362 |
Exac | rs566415362 |
Gnomad | rs566415362 |
Varsome | rs566415362 |
LitVar | rs566415362 |
Map | rs566415362 |
PheGenI | rs566415362 |
Biobank | rs566415362 |
1000 genomes | rs566415362 |
hgdp | rs566415362 |
ensembl | rs566415362 |
geneview | rs566415362 |
scholar | rs566415362 |
rs566415362 | |
pharmgkb | rs566415362 |
gwascentral | rs566415362 |
openSNP | rs566415362 |
23andMe | rs566415362 |
SNPshot | rs566415362 |
SNPdbe | rs566415362 |
MSV3d | rs566415362 |
GWAS Ctlg | rs566415362 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs566415362(G;G) rs566415362(T;T) |
Alt | rs566415362(G;G) rs566415362(T;T) |
Reference | Rs566415362(C;C) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 3 |
Variation | info |
Gene | ANO5 |
CLNDBN | Limb-girdle muscular dystrophy, type 2L Miyoshi muscular dystrophy 3 |
Reversed | 0 |
HGVS | NC_000011.9:g.22276946C>T |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201148.2, RCV000396590.1, |