Rs104894527

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Orientationplus
is asnp
is mentioned by
dbSNPrs104894527
PheGenIrs104894527
hapmaprs104894527
1000 genomesrs104894527
hgdprs104894527
ensemblrs104894527
gopubmedrs104894527
geneviewrs104894527
scholarrs104894527
googlers104894527
pharmgkbrs104894527
gwascentralrs104894527
openSNPrs104894527
23andMers104894527
23andMe allrs104894527
SNP Nexus

SNPshotrs104894527
SNPdbers104894527
MSV3drs104894527
GenePMM2
Chromosome16
Orientationplus
Position8804781
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894527(G;T)
Make rs104894527(T;T)
OMIM601785
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894527(T;T)
Alt rs104894527(T;T)
Reference rs104894527(G;G)
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.8898638G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008149.1