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rs104894495

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894495(C;C)
Make rs104894495(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position74892728
GeneMPI
is asnp
is mentioned by
dbSNPrs104894495
ebirs104894495
HLIrs104894495
Exacrs104894495
Varsomers104894495
Maprs104894495
PheGenIrs104894495
hapmaprs104894495
1000 genomesrs104894495
hgdprs104894495
ensemblrs104894495
gopubmedrs104894495
geneviewrs104894495
scholarrs104894495
googlers104894495
pharmgkbrs104894495
gwascentralrs104894495
openSNPrs104894495
23andMers104894495
23andMe allrs104894495
SNP Nexus

SNPshotrs104894495
SNPdbers104894495
MSV3drs104894495
GWAS Ctlgrs104894495
Max Magnitude0
OMIM154550
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894495(C;C)
Alt rs104894495(C;C)
Reference rs104894495(T;T)
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.75185069T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015421.26,