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rs587776801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776801(C;C)
Make rs587776801(C;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position63648516
GenePGM1
is asnp
is mentioned by
dbSNPrs587776801
ebirs587776801
HLIrs587776801
Exacrs587776801
Varsomers587776801
Maprs587776801
PheGenIrs587776801
hapmaprs587776801
1000 genomesrs587776801
hgdprs587776801
ensemblrs587776801
gopubmedrs587776801
geneviewrs587776801
scholarrs587776801
googlers587776801
pharmgkbrs587776801
gwascentralrs587776801
openSNPrs587776801
23andMers587776801
23andMe allrs587776801
SNP Nexus

SNPshotrs587776801
SNPdbers587776801
MSV3drs587776801
GWAS Ctlgrs587776801
Max Magnitude0
ClinVar
Risk rs587776801(C;C)
Alt rs587776801(C;C)
Reference rs587776801(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.64114187G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014621.28,