rs1057516259
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057516259(-;-) |
Make rs1057516259(-;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 64752012 |
Gene | PYGM |
is a | snp |
is | mentioned by |
dbSNP | rs1057516259 |
dbSNP (classic) | rs1057516259 |
ClinGen | rs1057516259 |
ebi | rs1057516259 |
HLI | rs1057516259 |
Exac | rs1057516259 |
Gnomad | rs1057516259 |
Varsome | rs1057516259 |
LitVar | rs1057516259 |
Map | rs1057516259 |
PheGenI | rs1057516259 |
Biobank | rs1057516259 |
1000 genomes | rs1057516259 |
hgdp | rs1057516259 |
ensembl | rs1057516259 |
geneview | rs1057516259 |
scholar | rs1057516259 |
rs1057516259 | |
pharmgkb | rs1057516259 |
gwascentral | rs1057516259 |
openSNP | rs1057516259 |
23andMe | rs1057516259 |
SNPshot | rs1057516259 |
SNPdbe | rs1057516259 |
MSV3d | rs1057516259 |
GWAS Ctlg | rs1057516259 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516259(-;-) |
Alt | rs1057516259(-;-) |
Reference | Rs1057516259(C;C) |
Significance | Probable-Pathogenic |
Disease | Glycogen storage disease |
Variation | info |
Gene | PYGM |
CLNDBN | Glycogen storage disease, type V |
Reversed | 1 |
HGVS | NC_000011.9:g.64519484delG |
CLNSRC | |
CLNACC | RCV000409547.1, |