rs786204785
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs786204785(-;GAGAAGCGGCGGCAGATCAG) |
Make rs786204785(GAGAAGCGGCGGCAGATCAG;GAGAAGCGGCGGCAGATCAG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 50944359 |
Gene | LOC105370492, PYGL |
is a | snp |
is | mentioned by |
dbSNP | rs786204785 |
dbSNP (classic) | rs786204785 |
ClinGen | rs786204785 |
ebi | rs786204785 |
HLI | rs786204785 |
Exac | rs786204785 |
Gnomad | rs786204785 |
Varsome | rs786204785 |
LitVar | rs786204785 |
Map | rs786204785 |
PheGenI | rs786204785 |
Biobank | rs786204785 |
1000 genomes | rs786204785 |
hgdp | rs786204785 |
ensembl | rs786204785 |
geneview | rs786204785 |
scholar | rs786204785 |
rs786204785 | |
pharmgkb | rs786204785 |
gwascentral | rs786204785 |
openSNP | rs786204785 |
23andMe | rs786204785 |
SNPshot | rs786204785 |
SNPdbe | rs786204785 |
MSV3d | rs786204785 |
GWAS Ctlg | rs786204785 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204785(GAGAAGCGGCGGCAGATCAG;GAGAAGCGGCGGCAGATCAG) |
Alt | rs786204785(GAGAAGCGGCGGCAGATCAG;GAGAAGCGGCGGCAGATCAG) |
Reference | Rs786204785(-;-) |
Significance | Pathogenic |
Disease | Glycogen storage disease |
Variation | info |
Gene | PYGL |
CLNDBN | Glycogen storage disease, type VI |
Reversed | 1 |
HGVS | NC_000014.8:g.51411077_51411078insCTGATCTGCCGCCGCTTCTC |
CLNSRC | |
CLNACC | RCV000169673.1, |