rs281865480
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs281865480(-;A) |
Make rs281865480(A;A) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 22259738 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs281865480 |
dbSNP (classic) | rs281865480 |
ClinGen | rs281865480 |
ebi | rs281865480 |
HLI | rs281865480 |
Exac | rs281865480 |
Gnomad | rs281865480 |
Varsome | rs281865480 |
LitVar | rs281865480 |
Map | rs281865480 |
PheGenI | rs281865480 |
Biobank | rs281865480 |
1000 genomes | rs281865480 |
hgdp | rs281865480 |
ensembl | rs281865480 |
geneview | rs281865480 |
scholar | rs281865480 |
rs281865480 | |
pharmgkb | rs281865480 |
gwascentral | rs281865480 |
openSNP | rs281865480 |
23andMe | rs281865480 |
SNPshot | rs281865480 |
SNPdbe | rs281865480 |
MSV3d | rs281865480 |
GWAS Ctlg | rs281865480 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865480(A;A) |
Alt | rs281865480(A;A) |
Reference | Rs281865480(-;-) |
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.22281284dupA |
CLNSRC | |
CLNACC | RCV000327025.1, |