rs886043327
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTAACTTAACA;TTAACTTAACA) | 0 | common in clinvar |
Chromosome | 11 |
Position | 22262117 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs886043327 |
dbSNP (classic) | rs886043327 |
ClinGen | rs886043327 |
ebi | rs886043327 |
HLI | rs886043327 |
Exac | rs886043327 |
Gnomad | rs886043327 |
Varsome | rs886043327 |
LitVar | rs886043327 |
Map | rs886043327 |
PheGenI | rs886043327 |
Biobank | rs886043327 |
1000 genomes | rs886043327 |
hgdp | rs886043327 |
ensembl | rs886043327 |
geneview | rs886043327 |
scholar | rs886043327 |
rs886043327 | |
pharmgkb | rs886043327 |
gwascentral | rs886043327 |
openSNP | rs886043327 |
23andMe | rs886043327 |
SNPshot | rs886043327 |
SNPdbe | rs886043327 |
MSV3d | rs886043327 |
GWAS Ctlg | rs886043327 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886043327(-;-) |
Alt | rs886043327(-;-) |
Reference | Rs886043327(TTAACTTAACA;TTAACTTAACA) |
Significance | Pathogenic |
Disease | Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | ANO5 |
CLNDBN | Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.22283663_22283673delTTAACTTAACA |
CLNSRC | |
CLNACC | RCV000291356.1, RCV000344005.1, RCV000481085.1, |