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rs398122912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122912(C;C)
Make rs398122912(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position63629539
GenePGM1
is asnp
is mentioned by
dbSNPrs398122912
ebirs398122912
HLIrs398122912
Exacrs398122912
Varsomers398122912
Maprs398122912
PheGenIrs398122912
hapmaprs398122912
1000 genomesrs398122912
hgdprs398122912
ensemblrs398122912
gopubmedrs398122912
geneviewrs398122912
scholarrs398122912
googlers398122912
pharmgkbrs398122912
gwascentralrs398122912
openSNPrs398122912
23andMers398122912
23andMe allrs398122912
SNP Nexus

SNPshotrs398122912
SNPdbers398122912
MSV3drs398122912
GWAS Ctlgrs398122912
Max Magnitude0
ClinVar
Risk rs398122912(C,T;C,T)
Alt rs398122912(C,T;C,T)
Reference rs398122912(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.64095210G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032990.25,