rs886044083
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | 19 |
Position | 46756717 |
Gene | FKRP |
is a | snp |
is | mentioned by |
dbSNP | rs886044083 |
dbSNP (classic) | rs886044083 |
ClinGen | rs886044083 |
ebi | rs886044083 |
HLI | rs886044083 |
Exac | rs886044083 |
Gnomad | rs886044083 |
Varsome | rs886044083 |
LitVar | rs886044083 |
Map | rs886044083 |
PheGenI | rs886044083 |
Biobank | rs886044083 |
1000 genomes | rs886044083 |
hgdp | rs886044083 |
ensembl | rs886044083 |
geneview | rs886044083 |
scholar | rs886044083 |
rs886044083 | |
pharmgkb | rs886044083 |
gwascentral | rs886044083 |
openSNP | rs886044083 |
23andMe | rs886044083 |
SNPshot | rs886044083 |
SNPdbe | rs886044083 |
MSV3d | rs886044083 |
GWAS Ctlg | rs886044083 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886044083(-;-) |
Alt | rs886044083(-;-) |
Reference | Rs886044083(C;C) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy-dystroglycanopathy |
Variation | info |
Gene | FKRP |
CLNDBN | Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 |
Reversed | 0 |
HGVS | NC_000019.9:g.47259974delC |
CLNSRC | |
CLNACC | RCV000376382.1, |