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rs104894587

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894587(C;C)
Make rs104894587(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7586745
GeneMPDU1
is asnp
is mentioned by
dbSNPrs104894587
ebirs104894587
HLIrs104894587
Exacrs104894587
Varsomers104894587
Maprs104894587
PheGenIrs104894587
hapmaprs104894587
1000 genomesrs104894587
hgdprs104894587
ensemblrs104894587
gopubmedrs104894587
geneviewrs104894587
scholarrs104894587
googlers104894587
pharmgkbrs104894587
gwascentralrs104894587
openSNPrs104894587
23andMers104894587
23andMe allrs104894587
SNP Nexus

SNPshotrs104894587
SNPdbers104894587
MSV3drs104894587
GWAS Ctlgrs104894587
Max Magnitude0
OMIM604041
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894587(C;C)
Alt rs104894587(C;C)
Reference rs104894587(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1F
Variation info
Gene MPDU1
CLNDBN Congenital disorder of glycosylation type 1F
Reversed 0
HGVS NC_000017.10:g.7490063T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006226.3,