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rs2306180

From SNPedia

Orientationplus
Stabilizedplus
Make rs2306180(C;C)
Make rs2306180(C;T)
Make rs2306180(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position21560468
GeneGYS2
is asnp
is mentioned by
dbSNPrs2306180
ebirs2306180
HLIrs2306180
Exacrs2306180
Varsomers2306180
Maprs2306180
PheGenIrs2306180
hapmaprs2306180
1000 genomesrs2306180
hgdprs2306180
ensemblrs2306180
gopubmedrs2306180
geneviewrs2306180
scholarrs2306180
googlers2306180
pharmgkbrs2306180
gwascentralrs2306180
openSNPrs2306180
23andMers2306180
23andMe allrs2306180
SNP Nexus

SNPshotrs2306180
SNPdbers2306180
MSV3drs2306180
GWAS Ctlgrs2306180
GMAF0.2479
Max Magnitude
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene GYS2
allele C
frequency 0.183
sift AFFECT FUNCTION
HuRef 1103649388724
Disease Association Defects in GYS2 are the cause of glycogen storage disease type 0 (GSD-0) (MIM:240600); also known as liver glycogen synthase deficiency. It is a rare form of fasting hypoglycemia presenting in infancy or early childhood and accompanied by high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia.



GET Evidence
GYS2-M363V
aa_change Met363Val
aa_change_short M363V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.738892
summary