rs80356479
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs80356479(-;-) |
Make rs80356479(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 42900955 |
Gene | G6PC |
is a | snp |
is | mentioned by |
dbSNP | rs80356479 |
dbSNP (classic) | rs80356479 |
ClinGen | rs80356479 |
ebi | rs80356479 |
HLI | rs80356479 |
Exac | rs80356479 |
Gnomad | rs80356479 |
Varsome | rs80356479 |
LitVar | rs80356479 |
Map | rs80356479 |
PheGenI | rs80356479 |
Biobank | rs80356479 |
1000 genomes | rs80356479 |
hgdp | rs80356479 |
ensembl | rs80356479 |
geneview | rs80356479 |
scholar | rs80356479 |
rs80356479 | |
pharmgkb | rs80356479 |
gwascentral | rs80356479 |
openSNP | rs80356479 |
23andMe | rs80356479 |
SNPshot | rs80356479 |
SNPdbe | rs80356479 |
MSV3d | rs80356479 |
GWAS Ctlg | rs80356479 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356479(-;-) |
Alt | rs80356479(-;-) |
Reference | Rs80356479(C;C) |
Significance | Pathogenic |
Disease | Glycogen storage disease type 1A not provided Glycogen storage disease |
Variation | info |
Gene | G6PC |
CLNDBN | Glycogen storage disease type 1A not provided Glycogen storage disease, type I |
Reversed | 0 |
HGVS | NC_000017.10:g.41052972delC |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000173073.2, RCV000199426.3, RCV000305827.1, |