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rs587777403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777403(C;C)
Make rs587777403(C;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position63593672
GenePGM1
is asnp
is mentioned by
dbSNPrs587777403
ebirs587777403
HLIrs587777403
Exacrs587777403
Varsomers587777403
Maprs587777403
PheGenIrs587777403
hapmaprs587777403
1000 genomesrs587777403
hgdprs587777403
ensemblrs587777403
gopubmedrs587777403
geneviewrs587777403
scholarrs587777403
googlers587777403
pharmgkbrs587777403
gwascentralrs587777403
openSNPrs587777403
23andMers587777403
23andMe allrs587777403
SNP Nexus

SNPshotrs587777403
SNPdbers587777403
MSV3drs587777403
GWAS Ctlgrs587777403
Max Magnitude0
ClinVar
Risk rs587777403(C;C)
Alt rs587777403(C;C)
Reference rs587777403(G;G)
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.64059343G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000119801.3,