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rs587777115

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777115(A;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position50945767
GeneDPM1
is asnp
is mentioned by
dbSNPrs587777115
dbSNP (classic)rs587777115
ClinGenrs587777115
ebirs587777115
HLIrs587777115
Exacrs587777115
Gnomadrs587777115
Varsomers587777115
LitVarrs587777115
Maprs587777115
PheGenIrs587777115
Biobankrs587777115
1000 genomesrs587777115
hgdprs587777115
ensemblrs587777115
geneviewrs587777115
scholarrs587777115
googlers587777115
pharmgkbrs587777115
gwascentralrs587777115
openSNPrs587777115
23andMers587777115
SNPshotrs587777115
SNPdbers587777115
MSV3drs587777115
GWAS Ctlgrs587777115
Max Magnitude0
ClinVar
Risk Rs587777115(A;A)
Alt Rs587777115(A;A)
Reference Rs587777115(T;T)
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.49562304A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087035.5,