rs587776757
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587776757(A;G) |
Make rs587776757(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 42901110 |
Gene | G6PC |
is a | snp |
is | mentioned by |
dbSNP | rs587776757 |
dbSNP (classic) | rs587776757 |
ClinGen | rs587776757 |
ebi | rs587776757 |
HLI | rs587776757 |
Exac | rs587776757 |
Gnomad | rs587776757 |
Varsome | rs587776757 |
LitVar | rs587776757 |
Map | rs587776757 |
PheGenI | rs587776757 |
Biobank | rs587776757 |
1000 genomes | rs587776757 |
hgdp | rs587776757 |
ensembl | rs587776757 |
geneview | rs587776757 |
scholar | rs587776757 |
rs587776757 | |
pharmgkb | rs587776757 |
gwascentral | rs587776757 |
openSNP | rs587776757 |
23andMe | rs587776757 |
SNPshot | rs587776757 |
SNPdbe | rs587776757 |
MSV3d | rs587776757 |
GWAS Ctlg | rs587776757 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776757(G;G) |
Alt | rs587776757(G;G) |
Reference | Rs587776757(A;A) |
Significance | Pathogenic |
Disease | Glycogen storage disease type 1A |
Variation | info |
Gene | G6PC |
CLNDBN | Glycogen storage disease type 1A |
Reversed | 0 |
HGVS | NC_000017.10:g.41053127A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000012782.3, |