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rs104894494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894494(C;T)
Make rs104894494(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position74891539
GeneMPI
is asnp
is mentioned by
dbSNPrs104894494
ebirs104894494
HLIrs104894494
Exacrs104894494
Varsomers104894494
Maprs104894494
PheGenIrs104894494
hapmaprs104894494
1000 genomesrs104894494
hgdprs104894494
ensemblrs104894494
gopubmedrs104894494
geneviewrs104894494
scholarrs104894494
googlers104894494
pharmgkbrs104894494
gwascentralrs104894494
openSNPrs104894494
23andMers104894494
23andMe allrs104894494
SNP Nexus

SNPshotrs104894494
SNPdbers104894494
MSV3drs104894494
GWAS Ctlgrs104894494
Max Magnitude0
OMIM154550
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894494(T;T)
Alt rs104894494(T;T)
Reference rs104894494(C;C)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1B
Variation info
Gene MPI
CLNDBN Congenital disorder of glycosylation type 1B
Reversed 0
HGVS NC_000015.9:g.75183880C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015420.27,