rs765427574
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs765427574(A;A) |
Make rs765427574(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 22257753 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs765427574 |
dbSNP (classic) | rs765427574 |
ClinGen | rs765427574 |
ebi | rs765427574 |
HLI | rs765427574 |
Exac | rs765427574 |
Gnomad | rs765427574 |
Varsome | rs765427574 |
LitVar | rs765427574 |
Map | rs765427574 |
PheGenI | rs765427574 |
Biobank | rs765427574 |
1000 genomes | rs765427574 |
hgdp | rs765427574 |
ensembl | rs765427574 |
geneview | rs765427574 |
scholar | rs765427574 |
rs765427574 | |
pharmgkb | rs765427574 |
gwascentral | rs765427574 |
openSNP | rs765427574 |
23andMe | rs765427574 |
SNPshot | rs765427574 |
SNPdbe | rs765427574 |
MSV3d | rs765427574 |
GWAS Ctlg | rs765427574 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765427574(A;A) |
Alt | rs765427574(A;A) |
Reference | Rs765427574(G;G) |
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.22279299G>A |
CLNSRC | |
CLNACC | RCV000384851.1, |