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rs587776831

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776831(C;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position21563227
GeneGYS2
is asnp
is mentioned by
dbSNPrs587776831
ebirs587776831
HLIrs587776831
Exacrs587776831
Varsomers587776831
Maprs587776831
PheGenIrs587776831
hapmaprs587776831
1000 genomesrs587776831
hgdprs587776831
ensemblrs587776831
gopubmedrs587776831
geneviewrs587776831
scholarrs587776831
googlers587776831
pharmgkbrs587776831
gwascentralrs587776831
openSNPrs587776831
23andMers587776831
23andMe allrs587776831
SNP Nexus

SNPshotrs587776831
SNPdbers587776831
MSV3drs587776831
GWAS Ctlgrs587776831
Max Magnitude0
ClinVar
Risk rs587776831(C;C)
Alt rs587776831(C;C)
Reference rs587776831(G;G)
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.21716161C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017428.28,