Rs104894531

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894531(C;G)
Make rs104894531(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8847753
GenePMM2
is asnp
is mentioned by
dbSNPrs104894531
PheGenIrs104894531
nextbiors104894531
hapmaprs104894531
1000 genomesrs104894531
hgdprs104894531
ensemblrs104894531
gopubmedrs104894531
geneviewrs104894531
scholarrs104894531
googlers104894531
pharmgkbrs104894531
gwascentralrs104894531
openSNPrs104894531
23andMers104894531
23andMe allrs104894531
SNP Nexus

SNPshotrs104894531
SNPdbers104894531
MSV3drs104894531
Max Magnitude0
OMIM601785
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104894531(G;G)
Alt rs104894531(G;G)
Reference rs104894531(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.8941610C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008153.1,