rs373345919
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 3 | Carrier of a glycogen storage disease Ia mutation |
Make rs373345919(T;T) |
Reference | GRCh38.p7 38.3/151 |
Chromosome | 17 |
Position | 42909364 |
Gene | G6PC |
is a | snp |
is | mentioned by |
dbSNP | rs373345919 |
dbSNP (classic) | rs373345919 |
ClinGen | rs373345919 |
ebi | rs373345919 |
HLI | rs373345919 |
Exac | rs373345919 |
Gnomad | rs373345919 |
Varsome | rs373345919 |
LitVar | rs373345919 |
Map | rs373345919 |
PheGenI | rs373345919 |
Biobank | rs373345919 |
1000 genomes | rs373345919 |
hgdp | rs373345919 |
ensembl | rs373345919 |
geneview | rs373345919 |
scholar | rs373345919 |
rs373345919 | |
pharmgkb | rs373345919 |
gwascentral | rs373345919 |
openSNP | rs373345919 |
23andMe | rs373345919 |
SNPshot | rs373345919 |
SNPdbe | rs373345919 |
MSV3d | rs373345919 |
GWAS Ctlg | rs373345919 |
Max Magnitude | 3 |
aka c.508C>T (p.Arg170Ter or R170X)