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rs764920787

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs764920787(A;A)
Make rs764920787(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position42901065
GeneG6PC
is asnp
is mentioned by
dbSNPrs764920787
dbSNP (classic)rs764920787
ClinGenrs764920787
ebirs764920787
HLIrs764920787
Exacrs764920787
Gnomadrs764920787
Varsomers764920787
LitVarrs764920787
Maprs764920787
PheGenIrs764920787
Biobankrs764920787
1000 genomesrs764920787
hgdprs764920787
ensemblrs764920787
geneviewrs764920787
scholarrs764920787
googlers764920787
pharmgkbrs764920787
gwascentralrs764920787
openSNPrs764920787
23andMers764920787
SNPshotrs764920787
SNPdbers764920787
MSV3drs764920787
GWAS Ctlgrs764920787
Max Magnitude0
ClinVar
Risk rs764920787(A;A)
Alt rs764920787(A;A)
Reference Rs764920787(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.41053082G>A
CLNSRC
CLNACC RCV000169341.1,