Rs104894525

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894525(A;A)
Make rs104894525(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position8811116
GenePMM2
is asnp
is mentioned by
dbSNPrs104894525
PheGenIrs104894525
nextbiors104894525
hapmaprs104894525
1000 genomesrs104894525
hgdprs104894525
ensemblrs104894525
gopubmedrs104894525
geneviewrs104894525
scholarrs104894525
googlers104894525
pharmgkbrs104894525
gwascentralrs104894525
openSNPrs104894525
23andMers104894525
23andMe allrs104894525
SNP Nexus

SNPshotrs104894525
SNPdbers104894525
MSV3drs104894525
Max Magnitude0
OMIM601785
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894525(A;A)
Alt rs104894525(A;A)
Reference rs104894525(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.8904973G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008147.1,