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rs121918371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918371(A;G)
Make rs121918371(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position63629521
GenePGM1
is asnp
is mentioned by
dbSNPrs121918371
ebirs121918371
HLIrs121918371
Exacrs121918371
Varsomers121918371
Maprs121918371
PheGenIrs121918371
hapmaprs121918371
1000 genomesrs121918371
hgdprs121918371
ensemblrs121918371
gopubmedrs121918371
geneviewrs121918371
scholarrs121918371
googlers121918371
pharmgkbrs121918371
gwascentralrs121918371
openSNPrs121918371
23andMers121918371
23andMe allrs121918371
SNP Nexus

SNPshotrs121918371
SNPdbers121918371
MSV3drs121918371
GWAS Ctlgrs121918371
Max Magnitude0
OMIM171900
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918371(G;G)
Alt rs121918371(G;G)
Reference rs121918371(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.64095192A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014620.27,