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rs587777114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777114(A;G)
Make rs587777114(G;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position50935173
GeneADNP-AS1, DPM1
is asnp
is mentioned by
dbSNPrs587777114
ebirs587777114
HLIrs587777114
Exacrs587777114
Varsomers587777114
Maprs587777114
PheGenIrs587777114
hapmaprs587777114
1000 genomesrs587777114
hgdprs587777114
ensemblrs587777114
gopubmedrs587777114
geneviewrs587777114
scholarrs587777114
googlers587777114
pharmgkbrs587777114
gwascentralrs587777114
openSNPrs587777114
23andMers587777114
23andMe allrs587777114
SNP Nexus

SNPshotrs587777114
SNPdbers587777114
MSV3drs587777114
GWAS Ctlgrs587777114
Max Magnitude0
ClinVar
Risk rs587777114(A,G;A,G)
Alt rs587777114(A,G;A,G)
Reference rs587777114(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1E
Variation info
Gene ADNP-AS1 DPM1 LOC101927631
CLNDBN Congenital disorder of glycosylation type 1E
Reversed 1
HGVS NC_000020.10:g.49551710A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000087034.4,