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rs587777116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777116(A;A)
Make rs587777116(A;C)
ReferenceGRCh38 38.1/142
Chromosome20
Position50942070
GeneADNP-AS1, DPM1
is asnp
is mentioned by
dbSNPrs587777116
ebirs587777116
HLIrs587777116
Exacrs587777116
Varsomers587777116
Maprs587777116
PheGenIrs587777116
hapmaprs587777116
1000 genomesrs587777116
hgdprs587777116
ensemblrs587777116
gopubmedrs587777116
geneviewrs587777116
scholarrs587777116
googlers587777116
pharmgkbrs587777116
gwascentralrs587777116
openSNPrs587777116
23andMers587777116
23andMe allrs587777116
SNP Nexus

SNPshotrs587777116
SNPdbers587777116
MSV3drs587777116
GWAS Ctlgrs587777116
Max Magnitude0
ClinVar
Risk rs587777116(A,C;A,C)
Alt rs587777116(A,C;A,C)
Reference rs587777116(G;G)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1E
Variation info
Gene DPM1 ADNP-AS1 LOC101927631
CLNDBN Congenital disorder of glycosylation type 1E
Reversed 1
HGVS NC_000020.10:g.49558607C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087036.4,