rs281865464
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281865464(A;A) |
Make rs281865464(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 22257759 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs281865464 |
dbSNP (classic) | rs281865464 |
ClinGen | rs281865464 |
ebi | rs281865464 |
HLI | rs281865464 |
Exac | rs281865464 |
Gnomad | rs281865464 |
Varsome | rs281865464 |
LitVar | rs281865464 |
Map | rs281865464 |
PheGenI | rs281865464 |
Biobank | rs281865464 |
1000 genomes | rs281865464 |
hgdp | rs281865464 |
ensembl | rs281865464 |
geneview | rs281865464 |
scholar | rs281865464 |
rs281865464 | |
pharmgkb | rs281865464 |
gwascentral | rs281865464 |
openSNP | rs281865464 |
23andMe | rs281865464 |
SNPshot | rs281865464 |
SNPdbe | rs281865464 |
MSV3d | rs281865464 |
GWAS Ctlg | rs281865464 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865464(A;A) |
Alt | rs281865464(A;A) |
Reference | Rs281865464(G;G) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | ANO5 |
CLNDBN | Limb-girdle muscular dystrophy, type 2L |
Reversed | 0 |
HGVS | NC_000011.9:g.22279305G>A |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032553.1, |