rs780226142
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs780226142(A;A) |
Make rs780226142(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 42911321 |
Gene | G6PC |
is a | snp |
is | mentioned by |
dbSNP | rs780226142 |
dbSNP (classic) | rs780226142 |
ClinGen | rs780226142 |
ebi | rs780226142 |
HLI | rs780226142 |
Exac | rs780226142 |
Gnomad | rs780226142 |
Varsome | rs780226142 |
LitVar | rs780226142 |
Map | rs780226142 |
PheGenI | rs780226142 |
Biobank | rs780226142 |
1000 genomes | rs780226142 |
hgdp | rs780226142 |
ensembl | rs780226142 |
geneview | rs780226142 |
scholar | rs780226142 |
rs780226142 | |
pharmgkb | rs780226142 |
gwascentral | rs780226142 |
openSNP | rs780226142 |
23andMe | rs780226142 |
SNPshot | rs780226142 |
SNPdbe | rs780226142 |
MSV3d | rs780226142 |
GWAS Ctlg | rs780226142 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780226142(A;A) rs780226142(T;T) |
Alt | rs780226142(A;A) rs780226142(T;T) |
Reference | Rs780226142(C;C) |
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.41063338C>A |
CLNSRC | |
CLNACC | RCV000169104.2, |