rs367727229
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs367727229(A;A) |
Make rs367727229(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 42911364 |
Gene | G6PC |
is a | snp |
is | mentioned by |
dbSNP | rs367727229 |
dbSNP (classic) | rs367727229 |
ClinGen | rs367727229 |
ebi | rs367727229 |
HLI | rs367727229 |
Exac | rs367727229 |
Gnomad | rs367727229 |
Varsome | rs367727229 |
LitVar | rs367727229 |
Map | rs367727229 |
PheGenI | rs367727229 |
Biobank | rs367727229 |
1000 genomes | rs367727229 |
hgdp | rs367727229 |
ensembl | rs367727229 |
geneview | rs367727229 |
scholar | rs367727229 |
rs367727229 | |
pharmgkb | rs367727229 |
gwascentral | rs367727229 |
openSNP | rs367727229 |
23andMe | rs367727229 |
SNPshot | rs367727229 |
SNPdbe | rs367727229 |
MSV3d | rs367727229 |
GWAS Ctlg | rs367727229 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367727229(A;A) rs367727229(T;T) |
Alt | rs367727229(A;A) rs367727229(T;T) |
Reference | Rs367727229(G;G) |
Significance | Probable-Pathogenic |
Disease | Glycogen storage disease type 1A |
Variation | info |
Gene | G6PC |
CLNDBN | Glycogen storage disease type 1A |
Reversed | 0 |
HGVS | NC_000017.10:g.41063381G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169319.1, |