rs765262083
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs765262083(C;T) |
Make rs765262083(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 22262207 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs765262083 |
dbSNP (classic) | rs765262083 |
ClinGen | rs765262083 |
ebi | rs765262083 |
HLI | rs765262083 |
Exac | rs765262083 |
Gnomad | rs765262083 |
Varsome | rs765262083 |
LitVar | rs765262083 |
Map | rs765262083 |
PheGenI | rs765262083 |
Biobank | rs765262083 |
1000 genomes | rs765262083 |
hgdp | rs765262083 |
ensembl | rs765262083 |
geneview | rs765262083 |
scholar | rs765262083 |
rs765262083 | |
pharmgkb | rs765262083 |
gwascentral | rs765262083 |
openSNP | rs765262083 |
23andMe | rs765262083 |
SNPshot | rs765262083 |
SNPdbe | rs765262083 |
MSV3d | rs765262083 |
GWAS Ctlg | rs765262083 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765262083(G;G) rs765262083(T;T) |
Alt | rs765262083(G;G) rs765262083(T;T) |
Reference | Rs765262083(C;C) |
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.22283753C>G |
CLNSRC | |
CLNACC | RCV000175113.1, RCV000175114.1, |