rs755117847
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs755117847(-;-) |
Make rs755117847(-;CA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 64759820 |
Gene | PYGM |
is a | snp |
is | mentioned by |
dbSNP | rs755117847 |
dbSNP (classic) | rs755117847 |
ClinGen | rs755117847 |
ebi | rs755117847 |
HLI | rs755117847 |
Exac | rs755117847 |
Gnomad | rs755117847 |
Varsome | rs755117847 |
LitVar | rs755117847 |
Map | rs755117847 |
PheGenI | rs755117847 |
Biobank | rs755117847 |
1000 genomes | rs755117847 |
hgdp | rs755117847 |
ensembl | rs755117847 |
geneview | rs755117847 |
scholar | rs755117847 |
rs755117847 | |
pharmgkb | rs755117847 |
gwascentral | rs755117847 |
openSNP | rs755117847 |
23andMe | rs755117847 |
SNPshot | rs755117847 |
SNPdbe | rs755117847 |
MSV3d | rs755117847 |
GWAS Ctlg | rs755117847 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755117847(-;-) |
Alt | rs755117847(-;-) |
Reference | Rs755117847(CA;CA) |
Significance | Probable-Pathogenic |
Disease | Glycogen storage disease |
Variation | info |
Gene | PYGM |
CLNDBN | Glycogen storage disease, type V |
Reversed | 0 |
HGVS | NC_000011.9:g.64527292_64527293delCA |
CLNSRC | |
CLNACC | RCV000169106.1, |