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rs587777402

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777402(A;T)
Make rs587777402(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position63593600
GenePGM1
is asnp
is mentioned by
dbSNPrs587777402
dbSNP (classic)rs587777402
ClinGenrs587777402
ebirs587777402
HLIrs587777402
Exacrs587777402
Gnomadrs587777402
Varsomers587777402
LitVarrs587777402
Maprs587777402
PheGenIrs587777402
Biobankrs587777402
1000 genomesrs587777402
hgdprs587777402
ensemblrs587777402
geneviewrs587777402
scholarrs587777402
googlers587777402
pharmgkbrs587777402
gwascentralrs587777402
openSNPrs587777402
23andMers587777402
SNPshotrs587777402
SNPdbers587777402
MSV3drs587777402
GWAS Ctlgrs587777402
Max Magnitude0
ClinVar
Risk rs587777402(T;T)
Alt rs587777402(T;T)
Reference Rs587777402(A;A)
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.64059271A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000119800.3,