rs398124626
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs398124626(-;T) |
Make rs398124626(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 22250347 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs398124626 |
dbSNP (classic) | rs398124626 |
ClinGen | rs398124626 |
ebi | rs398124626 |
HLI | rs398124626 |
Exac | rs398124626 |
Gnomad | rs398124626 |
Varsome | rs398124626 |
LitVar | rs398124626 |
Map | rs398124626 |
PheGenI | rs398124626 |
Biobank | rs398124626 |
1000 genomes | rs398124626 |
hgdp | rs398124626 |
ensembl | rs398124626 |
geneview | rs398124626 |
scholar | rs398124626 |
rs398124626 | |
pharmgkb | rs398124626 |
gwascentral | rs398124626 |
openSNP | rs398124626 |
23andMe | rs398124626 |
SNPshot | rs398124626 |
SNPdbe | rs398124626 |
MSV3d | rs398124626 |
GWAS Ctlg | rs398124626 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398124626(T;T) |
Alt | rs398124626(T;T) |
Reference | Rs398124626(-;-) |
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.22271893dupT |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000082856.4, RCV000173930.2, RCV000173931.3, |