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rs587777401

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777401(C;C)
Make rs587777401(C;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position63654414
GenePGM1
is asnp
is mentioned by
dbSNPrs587777401
ebirs587777401
HLIrs587777401
Exacrs587777401
Varsomers587777401
Maprs587777401
PheGenIrs587777401
hapmaprs587777401
1000 genomesrs587777401
hgdprs587777401
ensemblrs587777401
gopubmedrs587777401
geneviewrs587777401
scholarrs587777401
googlers587777401
pharmgkbrs587777401
gwascentralrs587777401
openSNPrs587777401
23andMers587777401
23andMe allrs587777401
SNP Nexus

SNPshotrs587777401
SNPdbers587777401
MSV3drs587777401
GWAS Ctlgrs587777401
Max Magnitude0
ClinVar
Risk rs587777401(C;C)
Alt rs587777401(C;C)
Reference rs587777401(T;T)
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.64120085T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000119799.3,