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rs398123309

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123309(C;C)
Make rs398123309(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8813090
GenePMM2
is asnp
is mentioned by
dbSNPrs398123309
ebirs398123309
HLIrs398123309
Exacrs398123309
Varsomers398123309
Maprs398123309
PheGenIrs398123309
hapmaprs398123309
1000 genomesrs398123309
hgdprs398123309
ensemblrs398123309
gopubmedrs398123309
geneviewrs398123309
scholarrs398123309
googlers398123309
pharmgkbrs398123309
gwascentralrs398123309
openSNPrs398123309
23andMers398123309
23andMe allrs398123309
SNP Nexus

SNPshotrs398123309
SNPdbers398123309
MSV3drs398123309
GWAS Ctlgrs398123309
Max Magnitude0
ClinVar
Risk rs398123309(A,C;A,C)
Alt rs398123309(A,C;A,C)
Reference rs398123309(G;G)
Significance 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.8906947G>C
CLNSRC HGMD
CLNACC RCV000078594.3, RCV000179744.1,