rs137854528
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs137854528(-;-) |
Make rs137854528(-;CA) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 22274644 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs137854528 |
dbSNP (classic) | rs137854528 |
ClinGen | rs137854528 |
ebi | rs137854528 |
HLI | rs137854528 |
Exac | rs137854528 |
Gnomad | rs137854528 |
Varsome | rs137854528 |
LitVar | rs137854528 |
Map | rs137854528 |
PheGenI | rs137854528 |
Biobank | rs137854528 |
1000 genomes | rs137854528 |
hgdp | rs137854528 |
ensembl | rs137854528 |
geneview | rs137854528 |
scholar | rs137854528 |
rs137854528 | |
pharmgkb | rs137854528 |
gwascentral | rs137854528 |
openSNP | rs137854528 |
23andMe | rs137854528 |
SNPshot | rs137854528 |
SNPdbe | rs137854528 |
MSV3d | rs137854528 |
GWAS Ctlg | rs137854528 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854528(-;-) |
Alt | rs137854528(-;-) |
Reference | Rs137854528(CA;CA) |
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.22296190_22296191delCA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032554.5, RCV000128779.1, |