rs121918422
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121918422(G;G) |
Make rs121918422(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 21546421 |
Gene | GYS2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918422 |
dbSNP (classic) | rs121918422 |
ClinGen | rs121918422 |
ebi | rs121918422 |
HLI | rs121918422 |
Exac | rs121918422 |
Gnomad | rs121918422 |
Varsome | rs121918422 |
LitVar | rs121918422 |
Map | rs121918422 |
PheGenI | rs121918422 |
Biobank | rs121918422 |
1000 genomes | rs121918422 |
hgdp | rs121918422 |
ensembl | rs121918422 |
geneview | rs121918422 |
scholar | rs121918422 |
rs121918422 | |
pharmgkb | rs121918422 |
gwascentral | rs121918422 |
openSNP | rs121918422 |
23andMe | rs121918422 |
SNPshot | rs121918422 |
SNPdbe | rs121918422 |
MSV3d | rs121918422 |
GWAS Ctlg | rs121918422 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918422(G;G) |
Alt | rs121918422(G;G) |
Reference | Rs121918422(T;T) |
Significance | Pathogenic |
Disease | Hypoglycemia with deficiency of glycogen synthetase in the liver |
Variation | info |
Gene | GYS2 |
CLNDBN | Hypoglycemia with deficiency of glycogen synthetase in the liver |
Reversed | 1 |
HGVS | NC_000012.11:g.21699355A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017431.28, |