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rs121908155

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908155(C;C)
Make rs121908155(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position155139987
GeneDPM3
is asnp
is mentioned by
dbSNPrs121908155
ebirs121908155
HLIrs121908155
Exacrs121908155
Varsomers121908155
Maprs121908155
PheGenIrs121908155
hapmaprs121908155
1000 genomesrs121908155
hgdprs121908155
ensemblrs121908155
gopubmedrs121908155
geneviewrs121908155
scholarrs121908155
googlers121908155
pharmgkbrs121908155
gwascentralrs121908155
openSNPrs121908155
23andMers121908155
23andMe allrs121908155
SNP Nexus

SNPshotrs121908155
SNPdbers121908155
MSV3drs121908155
GWAS Ctlgrs121908155
Max Magnitude0
OMIM605951
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908155(C;C)
Alt rs121908155(C;C)
Reference rs121908155(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1O
Variation info
Gene DPM3
CLNDBN Congenital disorder of glycosylation type 1O
Reversed 1
HGVS NC_000001.10:g.155112463A>G
CLNSRC Leiden Muscular Dystrophy pages (DPM3) OMIM Allelic Variant
CLNACC RCV000004967.2,


[PMID 19576565OA-icon.png] Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.