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rs121908583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908583(C;G)
Make rs121908583(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position50948650
GeneDPM1
is asnp
is mentioned by
dbSNPrs121908583
ebirs121908583
HLIrs121908583
Exacrs121908583
Varsomers121908583
Maprs121908583
PheGenIrs121908583
hapmaprs121908583
1000 genomesrs121908583
hgdprs121908583
ensemblrs121908583
gopubmedrs121908583
geneviewrs121908583
scholarrs121908583
googlers121908583
pharmgkbrs121908583
gwascentralrs121908583
openSNPrs121908583
23andMers121908583
23andMe allrs121908583
SNP Nexus

SNPshotrs121908583
SNPdbers121908583
MSV3drs121908583
GWAS Ctlgrs121908583
Max Magnitude0
OMIM603503
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908583(A,G;A,G)
Alt rs121908583(A,G;A,G)
Reference rs121908583(C;C)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1E
Variation info
Gene DPM1
CLNDBN Congenital disorder of glycosylation type 1E
Reversed 1
HGVS NC_000020.10:g.49565187G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006676.3,