rs145127621
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs145127621(A;A) |
Make rs145127621(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 22276125 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs145127621 |
dbSNP (classic) | rs145127621 |
ClinGen | rs145127621 |
ebi | rs145127621 |
HLI | rs145127621 |
Exac | rs145127621 |
Gnomad | rs145127621 |
Varsome | rs145127621 |
LitVar | rs145127621 |
Map | rs145127621 |
PheGenI | rs145127621 |
Biobank | rs145127621 |
1000 genomes | rs145127621 |
hgdp | rs145127621 |
ensembl | rs145127621 |
geneview | rs145127621 |
scholar | rs145127621 |
rs145127621 | |
pharmgkb | rs145127621 |
gwascentral | rs145127621 |
openSNP | rs145127621 |
23andMe | rs145127621 |
SNPshot | rs145127621 |
SNPdbe | rs145127621 |
MSV3d | rs145127621 |
GWAS Ctlg | rs145127621 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145127621(A;A) rs145127621(T;T) |
Alt | rs145127621(A;A) rs145127621(T;T) |
Reference | Rs145127621(G;G) |
Significance | Pathogenic |
Disease | not specified Limb-girdle muscular dystrophy |
Variation | info |
Gene | ANO5 |
CLNDBN | not specified Limb-girdle muscular dystrophy, type 2L |
Reversed | 0 |
HGVS | NC_000011.9:g.22297671G>A; NC_000011.9:g.22297671G>T |
CLNSRC | |
CLNACC | RCV000293643.1, RCV000276056.1, |