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rs1057516550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516550(-;-)
Make rs1057516550(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position74892804
GeneMPI
is asnp
is mentioned by
dbSNPrs1057516550
dbSNP (old)rs1057516550
ClinGenrs1057516550
ebirs1057516550
HLIrs1057516550
Exacrs1057516550
Gnomadrs1057516550
Varsomers1057516550
Maprs1057516550
PheGenIrs1057516550
Biobankrs1057516550
1000 genomesrs1057516550
hgdprs1057516550
ensemblrs1057516550
gopubmedrs1057516550
geneviewrs1057516550
scholarrs1057516550
googlers1057516550
pharmgkbrs1057516550
gwascentralrs1057516550
openSNPrs1057516550
23andMers1057516550
23andMe allrs1057516550
SNPshotrs1057516550
SNPdbers1057516550
MSV3drs1057516550
GWAS Ctlgrs1057516550
Max Magnitude0
ClinVar
Risk rs1057516550(-;-)
Alt rs1057516550(-;-)
Reference Rs1057516550(T;T)
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.75185145delT
CLNSRC
CLNACC RCV000410117.1,