rs797044667
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs797044667(-;A) |
Make rs797044667(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 22272930 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs797044667 |
dbSNP (classic) | rs797044667 |
ClinGen | rs797044667 |
ebi | rs797044667 |
HLI | rs797044667 |
Exac | rs797044667 |
Gnomad | rs797044667 |
Varsome | rs797044667 |
LitVar | rs797044667 |
Map | rs797044667 |
PheGenI | rs797044667 |
Biobank | rs797044667 |
1000 genomes | rs797044667 |
hgdp | rs797044667 |
ensembl | rs797044667 |
geneview | rs797044667 |
scholar | rs797044667 |
rs797044667 | |
pharmgkb | rs797044667 |
gwascentral | rs797044667 |
openSNP | rs797044667 |
23andMe | rs797044667 |
SNPshot | rs797044667 |
SNPdbe | rs797044667 |
MSV3d | rs797044667 |
GWAS Ctlg | rs797044667 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044667(A;A) |
Alt | rs797044667(A;A) |
Reference | Rs797044667(-;-) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 3 |
Variation | info |
Gene | ANO5 |
CLNDBN | Limb-girdle muscular dystrophy, type 2L Miyoshi muscular dystrophy 3 |
Reversed | 0 |
HGVS | NC_000011.9:g.22294476dupA |
CLNSRC | |
CLNACC | RCV000175502.1, RCV000175503.1, |