rs80356486
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTT;CTT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TTC;TTC) | 0 | common in clinvar |
Make rs80356486(-;-) |
Make rs80356486(-;TTC) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 42911331 |
Gene | G6PC |
is a | snp |
is | mentioned by |
dbSNP | rs80356486 |
dbSNP (classic) | rs80356486 |
ClinGen | rs80356486 |
ebi | rs80356486 |
HLI | rs80356486 |
Exac | rs80356486 |
Gnomad | rs80356486 |
Varsome | rs80356486 |
LitVar | rs80356486 |
Map | rs80356486 |
PheGenI | rs80356486 |
Biobank | rs80356486 |
1000 genomes | rs80356486 |
hgdp | rs80356486 |
ensembl | rs80356486 |
geneview | rs80356486 |
scholar | rs80356486 |
rs80356486 | |
pharmgkb | rs80356486 |
gwascentral | rs80356486 |
openSNP | rs80356486 |
23andMe | rs80356486 |
SNPshot | rs80356486 |
SNPdbe | rs80356486 |
MSV3d | rs80356486 |
GWAS Ctlg | rs80356486 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356486(-;-) Rs80356486(CTT;CTT) rs80356486(TCT;TCT) |
Alt | rs80356486(-;-) Rs80356486(CTT;CTT) rs80356486(TCT;TCT) |
Reference | Rs80356486(TTC;TTC) |
Significance | Other |
Disease | Glycogen storage disease type 1A |
Variation | info |
Gene | G6PC |
CLNDBN | Glycogen storage disease type 1A |
Reversed | 0 |
HGVS | NC_000017.10:g.41063349_41063351delTCT |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000409898.1, |