rs142027093
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs142027093(A;A) |
Make rs142027093(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 22263044 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs142027093 |
dbSNP (classic) | rs142027093 |
ClinGen | rs142027093 |
ebi | rs142027093 |
HLI | rs142027093 |
Exac | rs142027093 |
Gnomad | rs142027093 |
Varsome | rs142027093 |
LitVar | rs142027093 |
Map | rs142027093 |
PheGenI | rs142027093 |
Biobank | rs142027093 |
1000 genomes | rs142027093 |
hgdp | rs142027093 |
ensembl | rs142027093 |
geneview | rs142027093 |
scholar | rs142027093 |
rs142027093 | |
pharmgkb | rs142027093 |
gwascentral | rs142027093 |
openSNP | rs142027093 |
23andMe | rs142027093 |
SNPshot | rs142027093 |
SNPdbe | rs142027093 |
MSV3d | rs142027093 |
GWAS Ctlg | rs142027093 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142027093(A;A) |
Alt | rs142027093(A;A) |
Reference | Rs142027093(G;G) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | ANO5 |
CLNDBN | Limb-girdle muscular dystrophy, type 2L not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.22284590G>A |
CLNSRC | |
CLNACC | RCV000175257.2, RCV000479758.1, |