rs886041551
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAGAA;AAGAA) | 0 | common in clinvar |
Chromosome | 11 |
Position | 22225993 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs886041551 |
dbSNP (classic) | rs886041551 |
ClinGen | rs886041551 |
ebi | rs886041551 |
HLI | rs886041551 |
Exac | rs886041551 |
Gnomad | rs886041551 |
Varsome | rs886041551 |
LitVar | rs886041551 |
Map | rs886041551 |
PheGenI | rs886041551 |
Biobank | rs886041551 |
1000 genomes | rs886041551 |
hgdp | rs886041551 |
ensembl | rs886041551 |
geneview | rs886041551 |
scholar | rs886041551 |
rs886041551 | |
pharmgkb | rs886041551 |
gwascentral | rs886041551 |
openSNP | rs886041551 |
23andMe | rs886041551 |
SNPshot | rs886041551 |
SNPdbe | rs886041551 |
MSV3d | rs886041551 |
GWAS Ctlg | rs886041551 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886041551(-;-) |
Alt | rs886041551(-;-) |
Reference | Rs886041551(AAGAA;AAGAA) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | ANO5 |
CLNDBN | Limb-girdle muscular dystrophy, type 2L not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.22247539_22247543delAAAGA |
CLNSRC | |
CLNACC | RCV000323205.1, RCV000364776.1, |