Rs104894534

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Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894534(C;C)
Make rs104894534(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position8801863
GenePMM2
is asnp
is mentioned by
dbSNPrs104894534
PheGenIrs104894534
nextbiors104894534
hapmaprs104894534
1000 genomesrs104894534
hgdprs104894534
ensemblrs104894534
gopubmedrs104894534
geneviewrs104894534
scholarrs104894534
googlers104894534
pharmgkbrs104894534
gwascentralrs104894534
openSNPrs104894534
23andMers104894534
23andMe allrs104894534
SNP Nexus

SNPshotrs104894534
SNPdbers104894534
MSV3drs104894534
Max Magnitude0
OMIM601785
Desc
Variant0020
Relatedalso
ClinVar
Risk rs104894534(C;C)
Alt rs104894534(C;C)
Reference rs104894534(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.8895720T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008164.2,