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rs104894534

From SNPedia

Orientationplus
Stabilizedplus
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
dbSNP (classic)rs104894534
ClinGenrs104894534
ebirs104894534
HLIrs104894534
Exacrs104894534
Gnomadrs104894534
Varsomers104894534
LitVarrs104894534
Maprs104894534
PheGenIrs104894534
Biobankrs104894534
1000 genomesrs104894534
hgdprs104894534
ensemblrs104894534
geneviewrs104894534
scholarrs104894534
googlers104894534
pharmgkbrs104894534
gwascentralrs104894534
openSNPrs104894534
23andMers104894534
SNPshotrs104894534
SNPdbers104894534
MSV3drs104894534
GWAS Ctlgrs104894534
Max Magnitude0
OMIM601785
Desc
Variant0020
Relatedalso
ClinVar
Risk rs104894534(C;C)
Alt rs104894534(C;C)
Reference Rs104894534(T;T)
Significance Other
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 UniProtKB (protein)
CLNACC RCV000008164.4,