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rs267606834

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606834(A;G)
Make rs267606834(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position44074700
GeneG6PC3
is asnp
is mentioned by
dbSNPrs267606834
dbSNP (classic)rs267606834
ClinGenrs267606834
ebirs267606834
HLIrs267606834
Exacrs267606834
Gnomadrs267606834
Varsomers267606834
LitVarrs267606834
Maprs267606834
PheGenIrs267606834
Biobankrs267606834
1000 genomesrs267606834
hgdprs267606834
ensemblrs267606834
geneviewrs267606834
scholarrs267606834
googlers267606834
pharmgkbrs267606834
gwascentralrs267606834
openSNPrs267606834
23andMers267606834
SNPshotrs267606834
SNPdbers267606834
MSV3drs267606834
GWAS Ctlgrs267606834
Max Magnitude0
ClinVar
Risk rs267606834(G;G)
Alt rs267606834(G;G)
Reference Rs267606834(A;A)
Significance Pathogenic
Disease Dursun syndrome
Variation info
Gene G6PC3
CLNDBN Dursun syndrome
Reversed 0
HGVS NC_000017.10:g.42152068A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001097.2,