rs398124625
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398124625(A;A) |
Make rs398124625(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 22203803 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs398124625 |
dbSNP (classic) | rs398124625 |
ClinGen | rs398124625 |
ebi | rs398124625 |
HLI | rs398124625 |
Exac | rs398124625 |
Gnomad | rs398124625 |
Varsome | rs398124625 |
LitVar | rs398124625 |
Map | rs398124625 |
PheGenI | rs398124625 |
Biobank | rs398124625 |
1000 genomes | rs398124625 |
hgdp | rs398124625 |
ensembl | rs398124625 |
geneview | rs398124625 |
scholar | rs398124625 |
rs398124625 | |
pharmgkb | rs398124625 |
gwascentral | rs398124625 |
openSNP | rs398124625 |
23andMe | rs398124625 |
SNPshot | rs398124625 |
SNPdbe | rs398124625 |
MSV3d | rs398124625 |
GWAS Ctlg | rs398124625 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124625(A;A) |
Alt | rs398124625(A;A) |
Reference | Rs398124625(G;G) |
Significance | Pathogenic |
Disease | not provided Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy |
Variation | info |
Gene | ANO5 |
CLNDBN | not provided Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L |
Reversed | 0 |
HGVS | NC_000011.9:g.22225349G>A |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000082852.4, RCV000176018.2, RCV000176019.3, |