rs113993988
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs113993988(C;C) |
Make rs113993988(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 50905475 |
Gene | PYGL |
is a | snp |
is | mentioned by |
dbSNP | rs113993988 |
dbSNP (classic) | rs113993988 |
ClinGen | rs113993988 |
ebi | rs113993988 |
HLI | rs113993988 |
Exac | rs113993988 |
Gnomad | rs113993988 |
Varsome | rs113993988 |
LitVar | rs113993988 |
Map | rs113993988 |
PheGenI | rs113993988 |
Biobank | rs113993988 |
1000 genomes | rs113993988 |
hgdp | rs113993988 |
ensembl | rs113993988 |
geneview | rs113993988 |
scholar | rs113993988 |
rs113993988 | |
pharmgkb | rs113993988 |
gwascentral | rs113993988 |
openSNP | rs113993988 |
23andMe | rs113993988 |
SNPshot | rs113993988 |
SNPdbe | rs113993988 |
MSV3d | rs113993988 |
GWAS Ctlg | rs113993988 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113993988(C;C) |
Alt | rs113993988(C;C) |
Reference | Rs113993988(T;T) |
Significance | Pathogenic |
Disease | Glycogen storage disease |
Variation | info |
Gene | PYGL |
CLNDBN | Glycogen storage disease, type VI |
Reversed | 1 |
HGVS | NC_000014.8:g.51372193A>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020501.2, |