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rs587777405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777405(-;-)
Make rs587777405(-;C)
ReferenceGRCh38 38.1/142
Chromosome1
Position63631761
GenePGM1
is asnp
is mentioned by
dbSNPrs587777405
dbSNP (classic)rs587777405
ClinGenrs587777405
ebirs587777405
HLIrs587777405
Exacrs587777405
Gnomadrs587777405
Varsomers587777405
LitVarrs587777405
Maprs587777405
PheGenIrs587777405
Biobankrs587777405
1000 genomesrs587777405
hgdprs587777405
ensemblrs587777405
geneviewrs587777405
scholarrs587777405
googlers587777405
pharmgkbrs587777405
gwascentralrs587777405
openSNPrs587777405
23andMers587777405
SNPshotrs587777405
SNPdbers587777405
MSV3drs587777405
GWAS Ctlgrs587777405
Max Magnitude0
ClinVar
Risk rs587777405(-;-)
Alt rs587777405(-;-)
Reference Rs587777405(C;C)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1t
Variation info
Gene PGM1
CLNDBN Congenital disorder of glycosylation type 1t
Reversed 0
HGVS NC_000001.10:g.64097432delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000119803.3,