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rs2306180

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs2306180(C;C)
Make rs2306180(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position21560468
GeneGYS2
is asnp
is mentioned by
dbSNPrs2306180
dbSNP (old)rs2306180
ClinGenrs2306180
ebirs2306180
HLIrs2306180
Exacrs2306180
Gnomadrs2306180
Varsomers2306180
LitVarrs2306180
Maprs2306180
PheGenIrs2306180
Biobankrs2306180
1000 genomesrs2306180
hgdprs2306180
ensemblrs2306180
gopubmedrs2306180
geneviewrs2306180
scholarrs2306180
googlers2306180
pharmgkbrs2306180
gwascentralrs2306180
openSNPrs2306180
23andMers2306180
23andMe allrs2306180
SNPshotrs2306180
SNPdbers2306180
MSV3drs2306180
GWAS Ctlgrs2306180
GMAF0.2479
Max Magnitude0
? (C;C) (C;T) (T;T) 28




ClinVar
Risk rs2306180(C;C)
Alt rs2306180(C;C)
Reference Rs2306180(T;T)
Significance Non-pathogenic
Disease not specified Hypoglycemia with deficiency of glycogen synthetase in the liver
Variation info
Gene GYS2
CLNDBN not specified Hypoglycemia with deficiency of glycogen synthetase in the liver
Reversed 0
HGVS NC_000012.11:g.21713402T>C
CLNSRC
CLNACC RCV000242605.1, RCV000297841.1,