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Rs104894526

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Orientationplus
is asnp
is mentioned by
dbSNPrs104894526
PheGenIrs104894526
hapmaprs104894526
1000 genomesrs104894526
hgdprs104894526
ensemblrs104894526
gopubmedrs104894526
geneviewrs104894526
scholarrs104894526
googlers104894526
pharmgkbrs104894526
gwascentralrs104894526
openSNPrs104894526
23andMers104894526
23andMe allrs104894526
SNP Nexus

SNPshotrs104894526
SNPdbers104894526
MSV3drs104894526
GenePMM2
Chromosome16
Orientationplus
Position8811674
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894526(C;T)
Make rs104894526(T;T)
OMIM601785
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894526(T;T)
Alt rs104894526(T;T)
Reference rs104894526(C;C)
Significance 5
Disease Carbohydrate-deficient glycoprotein syndrome type I
ClinVar info
Gene PMM2
CLNDBN Carbohydrate-deficient glycoprotein syndrome type I
Reversed 0
CLNHGVS NC_000016.9:g.8905531C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008148.2