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rs1057517115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517115(-;-)
Make rs1057517115(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position74896221
GeneMPI
is asnp
is mentioned by
dbSNPrs1057517115
dbSNP (old)rs1057517115
ClinGenrs1057517115
ebirs1057517115
HLIrs1057517115
Exacrs1057517115
Gnomadrs1057517115
Varsomers1057517115
LitVarrs1057517115
Maprs1057517115
PheGenIrs1057517115
Biobankrs1057517115
1000 genomesrs1057517115
hgdprs1057517115
ensemblrs1057517115
gopubmedrs1057517115
geneviewrs1057517115
scholarrs1057517115
googlers1057517115
pharmgkbrs1057517115
gwascentralrs1057517115
openSNPrs1057517115
23andMers1057517115
23andMe allrs1057517115
SNPshotrs1057517115
SNPdbers1057517115
MSV3drs1057517115
GWAS Ctlgrs1057517115
Max Magnitude0
ClinVar
Risk rs1057517115(-;-)
Alt rs1057517115(-;-)
Reference Rs1057517115(G;G)
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.75188562delG
CLNSRC
CLNACC RCV000409548.1,