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rs104894588

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894588(C;C)
Make rs104894588(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7583864
GeneLOC102724164, MPDU1
is asnp
is mentioned by
dbSNPrs104894588
ebirs104894588
HLIrs104894588
Exacrs104894588
Varsomers104894588
Maprs104894588
PheGenIrs104894588
hapmaprs104894588
1000 genomesrs104894588
hgdprs104894588
ensemblrs104894588
gopubmedrs104894588
geneviewrs104894588
scholarrs104894588
googlers104894588
pharmgkbrs104894588
gwascentralrs104894588
openSNPrs104894588
23andMers104894588
23andMe allrs104894588
SNP Nexus

SNPshotrs104894588
SNPdbers104894588
MSV3drs104894588
GWAS Ctlgrs104894588
Max Magnitude0
OMIM604041
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894588(C;C)
Alt rs104894588(C;C)
Reference rs104894588(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1F
Variation info
Gene MPDU1 LOC100996842
CLNDBN Congenital disorder of glycosylation type 1F
Reversed 0
HGVS NC_000017.10:g.7487182T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006227.3,