Rs104894533

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Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894533(G;G)
Make rs104894533(G;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position8801827
GenePMM2
is asnp
is mentioned by
dbSNPrs104894533
Exacrs104894533
PheGenIrs104894533
nextbiors104894533
hapmaprs104894533
1000 genomesrs104894533
hgdprs104894533
ensemblrs104894533
gopubmedrs104894533
geneviewrs104894533
scholarrs104894533
googlers104894533
pharmgkbrs104894533
gwascentralrs104894533
openSNPrs104894533
23andMers104894533
23andMe allrs104894533
SNP Nexus

SNPshotrs104894533
SNPdbers104894533
MSV3drs104894533
Max Magnitude0
OMIM601785
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894533(G;G)
Alt rs104894533(G;G)
Reference rs104894533(T;T)
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.8895684T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008160.1,