Rs104894527

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894527(G;T)
Make rs104894527(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position8804781
GenePMM2
is asnp
is mentioned by
dbSNPrs104894527
Exacrs104894527
PheGenIrs104894527
nextbiors104894527
hapmaprs104894527
1000 genomesrs104894527
hgdprs104894527
ensemblrs104894527
gopubmedrs104894527
geneviewrs104894527
scholarrs104894527
googlers104894527
pharmgkbrs104894527
gwascentralrs104894527
openSNPrs104894527
23andMers104894527
23andMe allrs104894527
SNP Nexus

SNPshotrs104894527
SNPdbers104894527
MSV3drs104894527
Max Magnitude0
OMIM601785
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894527(T;T)
Alt rs104894527(T;T)
Reference rs104894527(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.8898638G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008149.1,