rs780201679
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
(T;T) | 0 | common in clinvar |
Make rs780201679(-;GGAC) |
Make rs780201679(GGAC;GGAC) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 22270405 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs780201679 |
dbSNP (classic) | rs780201679 |
ClinGen | rs780201679 |
ebi | rs780201679 |
HLI | rs780201679 |
Exac | rs780201679 |
Gnomad | rs780201679 |
Varsome | rs780201679 |
LitVar | rs780201679 |
Map | rs780201679 |
PheGenI | rs780201679 |
Biobank | rs780201679 |
1000 genomes | rs780201679 |
hgdp | rs780201679 |
ensembl | rs780201679 |
geneview | rs780201679 |
scholar | rs780201679 |
rs780201679 | |
pharmgkb | rs780201679 |
gwascentral | rs780201679 |
openSNP | rs780201679 |
23andMe | rs780201679 |
SNPshot | rs780201679 |
SNPdbe | rs780201679 |
MSV3d | rs780201679 |
GWAS Ctlg | rs780201679 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780201679(GGAC;GGAC) Rs780201679(T;T) |
Alt | rs780201679(GGAC;GGAC) Rs780201679(T;T) |
Reference | Rs780201679(-;-) |
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.22291951dupT |
CLNSRC | |
CLNACC | RCV000336990.1, |