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rs780226142

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs780226142(A;A)
Make rs780226142(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position42911321
GeneG6PC
is asnp
is mentioned by
dbSNPrs780226142
ebirs780226142
HLIrs780226142
Exacrs780226142
Varsomers780226142
Maprs780226142
PheGenIrs780226142
hapmaprs780226142
1000 genomesrs780226142
hgdprs780226142
ensemblrs780226142
gopubmedrs780226142
geneviewrs780226142
scholarrs780226142
googlers780226142
pharmgkbrs780226142
gwascentralrs780226142
openSNPrs780226142
23andMers780226142
23andMe allrs780226142
SNP Nexus

SNPshotrs780226142
SNPdbers780226142
MSV3drs780226142
GWAS Ctlgrs780226142
Max Magnitude0
ClinVar
Risk rs780226142(A,T;A,T)
Alt rs780226142(A,T;A,T)
Reference rs780226142(C;C)
Significance Probable-Pathogenic
Disease Glycogen storage disease type 1A
Variation info
Gene G6PC
CLNDBN Glycogen storage disease type 1A
Reversed 0
HGVS NC_000017.10:g.41063338C>A
CLNSRC
CLNACC RCV000169104.1,