Rs104894533

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Orientationplus
is asnp
is mentioned by
dbSNPrs104894533
PheGenIrs104894533
nextbiors104894533
hapmaprs104894533
1000 genomesrs104894533
hgdprs104894533
ensemblrs104894533
gopubmedrs104894533
geneviewrs104894533
scholarrs104894533
googlers104894533
pharmgkbrs104894533
gwascentralrs104894533
openSNPrs104894533
23andMers104894533
23andMe allrs104894533
SNP Nexus

SNPshotrs104894533
SNPdbers104894533
MSV3drs104894533
GenePMM2
Chromosome16
Orientationplus
Position8895684
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894533(G;G)
Make rs104894533(G;T)
OMIM601785
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894533(G;G)
Alt rs104894533(G;G)
Reference rs104894533(T;T)
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.8895684T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008160.1