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rs367727229

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs367727229(A;A)
Make rs367727229(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position42911364
GeneG6PC
is asnp
is mentioned by
dbSNPrs367727229
dbSNP (classic)rs367727229
ClinGenrs367727229
ebirs367727229
HLIrs367727229
Exacrs367727229
Gnomadrs367727229
Varsomers367727229
LitVarrs367727229
Maprs367727229
PheGenIrs367727229
Biobankrs367727229
1000 genomesrs367727229
hgdprs367727229
ensemblrs367727229
geneviewrs367727229
scholarrs367727229
googlers367727229
pharmgkbrs367727229
gwascentralrs367727229
openSNPrs367727229
23andMers367727229
SNPshotrs367727229
SNPdbers367727229
MSV3drs367727229
GWAS Ctlgrs367727229
Max Magnitude0
ClinVar
Risk rs367727229(A;A) rs367727229(T;T)
Alt rs367727229(A;A) rs367727229(T;T)
Reference Rs367727229(G;G)
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.41063381G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000169319.1,