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rs606231368

From SNPedia

Merged intors80356488
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs606231368(-;AT)
Make rs606231368(AT;AT)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position42907561
GeneG6PC
is asnp
is mentioned by
dbSNPrs606231368
dbSNP (classic)rs606231368
ClinGenrs606231368
ebirs606231368
HLIrs606231368
Exacrs606231368
Gnomadrs606231368
Varsomers606231368
LitVarrs606231368
Maprs606231368
PheGenIrs606231368
Biobankrs606231368
1000 genomesrs606231368
hgdprs606231368
ensemblrs606231368
geneviewrs606231368
scholarrs606231368
googlers606231368
pharmgkbrs606231368
gwascentralrs606231368
openSNPrs606231368
23andMers606231368
SNPshotrs606231368
SNPdbers606231368
MSV3drs606231368
GWAS Ctlgrs606231368
StatusMerged into rs80356488
Max Magnitude0
ClinVar
Risk rs606231368(TA;TA)
Alt rs606231368(TA;TA)
Reference Rs606231368(;)
Significance Pathogenic
Disease Glycogen storage disease type 1A
Variation info
Gene G6PC
CLNDBN Glycogen storage disease type 1A
Reversed 0
HGVS NC_000017.10:g.41059578_41059579dupTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000012777.4,