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Rs104894530

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894530(C;C)
Make rs104894530(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8811080
GenePMM2
is asnp
is mentioned by
dbSNPrs104894530
PheGenIrs104894530
nextbiors104894530
hapmaprs104894530
1000 genomesrs104894530
hgdprs104894530
ensemblrs104894530
gopubmedrs104894530
geneviewrs104894530
scholarrs104894530
googlers104894530
pharmgkbrs104894530
gwascentralrs104894530
openSNPrs104894530
23andMers104894530
23andMe allrs104894530
SNP Nexus

SNPshotrs104894530
SNPdbers104894530
MSV3drs104894530
Max Magnitude0
OMIM601785
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894530(C;C)
Alt rs104894530(C;C)
Reference rs104894530(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.8904937G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008152.2,