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rs104894489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894489(A;A)
Make rs104894489(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position74893306
GeneMPI
is asnp
is mentioned by
dbSNPrs104894489
ebirs104894489
HLIrs104894489
Exacrs104894489
Varsomers104894489
Maprs104894489
PheGenIrs104894489
hapmaprs104894489
1000 genomesrs104894489
hgdprs104894489
ensemblrs104894489
gopubmedrs104894489
geneviewrs104894489
scholarrs104894489
googlers104894489
pharmgkbrs104894489
gwascentralrs104894489
openSNPrs104894489
23andMers104894489
23andMe allrs104894489
SNP Nexus

SNPshotrs104894489
SNPdbers104894489
MSV3drs104894489
GWAS Ctlgrs104894489
Max Magnitude0
OMIM154550
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894489(A;A)
Alt rs104894489(A;A)
Reference rs104894489(G;G)
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.75185647G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015419.27,