rs116135678
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs116135678(A;A) |
Make rs116135678(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 64754024 |
Gene | PYGM |
is a | snp |
is | mentioned by |
dbSNP | rs116135678 |
dbSNP (classic) | rs116135678 |
ClinGen | rs116135678 |
ebi | rs116135678 |
HLI | rs116135678 |
Exac | rs116135678 |
Gnomad | rs116135678 |
Varsome | rs116135678 |
LitVar | rs116135678 |
Map | rs116135678 |
PheGenI | rs116135678 |
Biobank | rs116135678 |
1000 genomes | rs116135678 |
hgdp | rs116135678 |
ensembl | rs116135678 |
geneview | rs116135678 |
scholar | rs116135678 |
rs116135678 | |
pharmgkb | rs116135678 |
gwascentral | rs116135678 |
openSNP | rs116135678 |
23andMe | rs116135678 |
SNPshot | rs116135678 |
SNPdbe | rs116135678 |
MSV3d | rs116135678 |
GWAS Ctlg | rs116135678 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs116135678(A;A) |
Alt | rs116135678(A;A) |
Reference | Rs116135678(G;G) |
Significance | Other |
Disease | Glycogen storage disease |
Variation | info |
Gene | PYGM |
CLNDBN | Glycogen storage disease, type V |
Reversed | 0 |
HGVS | NC_000011.9:g.64521496G>A |
CLNSRC | |
CLNACC | RCV000185576.3, |