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rs104894589

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894589(C;C)
Make rs104894589(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7585997
GeneMPDU1
is asnp
is mentioned by
dbSNPrs104894589
ebirs104894589
HLIrs104894589
Exacrs104894589
Varsomers104894589
Maprs104894589
PheGenIrs104894589
hapmaprs104894589
1000 genomesrs104894589
hgdprs104894589
ensemblrs104894589
gopubmedrs104894589
geneviewrs104894589
scholarrs104894589
googlers104894589
pharmgkbrs104894589
gwascentralrs104894589
openSNPrs104894589
23andMers104894589
23andMe allrs104894589
SNP Nexus

SNPshotrs104894589
SNPdbers104894589
MSV3drs104894589
GWAS Ctlgrs104894589
Max Magnitude0
OMIM604041
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894589(C;C)
Alt rs104894589(C;C)
Reference rs104894589(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1F
Variation info
Gene LOC100996842 MPDU1
CLNDBN Congenital disorder of glycosylation type 1F
Reversed 0
HGVS NC_000017.10:g.7489315T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006229.3,