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rs398123310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123310(C;G)
Make rs398123310(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8847736
GenePMM2
is asnp
is mentioned by
dbSNPrs398123310
ClinGenrs398123310
ebirs398123310
HLIrs398123310
Exacrs398123310
Varsomers398123310
Maprs398123310
PheGenIrs398123310
hapmaprs398123310
1000 genomesrs398123310
hgdprs398123310
ensemblrs398123310
gopubmedrs398123310
geneviewrs398123310
scholarrs398123310
googlers398123310
pharmgkbrs398123310
gwascentralrs398123310
openSNPrs398123310
23andMers398123310
23andMe allrs398123310
SNP Nexus

SNPshotrs398123310
SNPdbers398123310
MSV3drs398123310
GWAS Ctlgrs398123310
Max Magnitude0
ClinVar
Risk rs398123310(G;G)
Alt rs398123310(G;G)
Reference Rs398123310(C;C)
Significance Probable-Pathogenic
Disease not provided Carbohydrate-deficient glycoprotein syndrome type I
Variation info
Gene PMM2
CLNDBN not provided Carbohydrate-deficient glycoprotein syndrome type I
Reversed 0
HGVS NC_000016.9:g.8941593C>G
CLNSRC ClinVar Emory University
CLNACC RCV000078595.3, RCV000180133.1,