rs142073798
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs142073798(A;A) |
Make rs142073798(A;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 22276177 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs142073798 |
dbSNP (classic) | rs142073798 |
ClinGen | rs142073798 |
ebi | rs142073798 |
HLI | rs142073798 |
Exac | rs142073798 |
Gnomad | rs142073798 |
Varsome | rs142073798 |
LitVar | rs142073798 |
Map | rs142073798 |
PheGenI | rs142073798 |
Biobank | rs142073798 |
1000 genomes | rs142073798 |
hgdp | rs142073798 |
ensembl | rs142073798 |
geneview | rs142073798 |
scholar | rs142073798 |
rs142073798 | |
pharmgkb | rs142073798 |
gwascentral | rs142073798 |
openSNP | rs142073798 |
23andMe | rs142073798 |
SNPshot | rs142073798 |
SNPdbe | rs142073798 |
MSV3d | rs142073798 |
GWAS Ctlg | rs142073798 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142073798(A;A) rs142073798(G;G) |
Alt | rs142073798(A;A) rs142073798(G;G) |
Reference | Rs142073798(T;T) |
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.22297723T>A |
CLNSRC | |
CLNACC | RCV000347528.1, |