Rs104894526

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894526(C;T)
Make rs104894526(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position8811674
GenePMM2
is asnp
is mentioned by
dbSNPrs104894526
PheGenIrs104894526
nextbiors104894526
hapmaprs104894526
1000 genomesrs104894526
hgdprs104894526
ensemblrs104894526
gopubmedrs104894526
geneviewrs104894526
scholarrs104894526
googlers104894526
pharmgkbrs104894526
gwascentralrs104894526
openSNPrs104894526
23andMers104894526
23andMe allrs104894526
SNP Nexus

SNPshotrs104894526
SNPdbers104894526
MSV3drs104894526
Max Magnitude0
OMIM601785
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894526(T;T)
Alt rs104894526(T;T)
Reference rs104894526(C;C)
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.8905531C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008148.2,