rs764920787
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs764920787(A;A) |
Make rs764920787(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 42901065 |
Gene | G6PC |
is a | snp |
is | mentioned by |
dbSNP | rs764920787 |
dbSNP (classic) | rs764920787 |
ClinGen | rs764920787 |
ebi | rs764920787 |
HLI | rs764920787 |
Exac | rs764920787 |
Gnomad | rs764920787 |
Varsome | rs764920787 |
LitVar | rs764920787 |
Map | rs764920787 |
PheGenI | rs764920787 |
Biobank | rs764920787 |
1000 genomes | rs764920787 |
hgdp | rs764920787 |
ensembl | rs764920787 |
geneview | rs764920787 |
scholar | rs764920787 |
rs764920787 | |
pharmgkb | rs764920787 |
gwascentral | rs764920787 |
openSNP | rs764920787 |
23andMe | rs764920787 |
SNPshot | rs764920787 |
SNPdbe | rs764920787 |
MSV3d | rs764920787 |
GWAS Ctlg | rs764920787 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764920787(A;A) |
Alt | rs764920787(A;A) |
Reference | Rs764920787(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.41053082G>A |
CLNSRC | |
CLNACC | RCV000169341.1, |