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rs148032587

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs148032587(A;A)
Make rs148032587(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position8811173
GenePMM2
is asnp
is mentioned by
dbSNPrs148032587
ebirs148032587
HLIrs148032587
Exacrs148032587
Varsomers148032587
Maprs148032587
PheGenIrs148032587
hapmaprs148032587
1000 genomesrs148032587
hgdprs148032587
ensemblrs148032587
gopubmedrs148032587
geneviewrs148032587
scholarrs148032587
googlers148032587
pharmgkbrs148032587
gwascentralrs148032587
openSNPrs148032587
23andMers148032587
23andMe allrs148032587
SNP Nexus

SNPshotrs148032587
SNPdbers148032587
MSV3drs148032587
GWAS Ctlgrs148032587
Max Magnitude0
ClinVar
Risk rs148032587(A;A)
Alt rs148032587(A;A)
Reference rs148032587(G;G)
Significance Pathogenic
Disease Carbohydrate-deficient glycoprotein syndrome type I
Variation info
Gene PMM2
CLNDBN Carbohydrate-deficient glycoprotein syndrome type I
Reversed 0
HGVS NC_000016.9:g.8905030G>A
CLNSRC
CLNACC RCV000178754.1,