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rs1057516466

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516466(-;-)
Make rs1057516466(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position74890630
GeneMPI
is asnp
is mentioned by
dbSNPrs1057516466
dbSNP (old)rs1057516466
ClinGenrs1057516466
ebirs1057516466
HLIrs1057516466
Exacrs1057516466
Gnomadrs1057516466
Varsomers1057516466
Maprs1057516466
PheGenIrs1057516466
Biobankrs1057516466
1000 genomesrs1057516466
hgdprs1057516466
ensemblrs1057516466
gopubmedrs1057516466
geneviewrs1057516466
scholarrs1057516466
googlers1057516466
pharmgkbrs1057516466
gwascentralrs1057516466
openSNPrs1057516466
23andMers1057516466
23andMe allrs1057516466
SNPshotrs1057516466
SNPdbers1057516466
MSV3drs1057516466
GWAS Ctlgrs1057516466
Max Magnitude0
ClinVar
Risk rs1057516466(-;-)
Alt rs1057516466(-;-)
Reference Rs1057516466(C;C)
Significance Probable-Pathogenic
Disease Congenital disorder of glycosylation type 1B
Variation info
Gene MPI
CLNDBN Congenital disorder of glycosylation type 1B
Reversed 0
HGVS NC_000015.9:g.75182971delC
CLNSRC
CLNACC RCV000411654.1,