rs137854526
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs137854526(C;C) |
Make rs137854526(C;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 22262231 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs137854526 |
dbSNP (classic) | rs137854526 |
ClinGen | rs137854526 |
ebi | rs137854526 |
HLI | rs137854526 |
Exac | rs137854526 |
Gnomad | rs137854526 |
Varsome | rs137854526 |
LitVar | rs137854526 |
Map | rs137854526 |
PheGenI | rs137854526 |
Biobank | rs137854526 |
1000 genomes | rs137854526 |
hgdp | rs137854526 |
ensembl | rs137854526 |
geneview | rs137854526 |
scholar | rs137854526 |
rs137854526 | |
pharmgkb | rs137854526 |
gwascentral | rs137854526 |
openSNP | rs137854526 |
23andMe | rs137854526 |
SNPshot | rs137854526 |
SNPdbe | rs137854526 |
MSV3d | rs137854526 |
GWAS Ctlg | rs137854526 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137854526(C;C) |
Alt | rs137854526(C;C) |
Reference | Rs137854526(T;T) |
Significance | Pathogenic |
Disease | not provided Limb-girdle muscular dystrophy |
Variation | info |
Gene | ANO5 |
CLNDBN | not provided Limb-girdle muscular dystrophy, type 2L |
Reversed | 0 |
HGVS | NC_000011.9:g.22283777T>C |
CLNSRC | |
CLNACC | RCV000128774.1, RCV000405473.1, |