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rs1057516573

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516573(A;A)
Make rs1057516573(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position74891378
GeneMPI
is asnp
is mentioned by
dbSNPrs1057516573
dbSNP (old)rs1057516573
ClinGenrs1057516573
ebirs1057516573
HLIrs1057516573
Exacrs1057516573
Gnomadrs1057516573
Varsomers1057516573
Maprs1057516573
PheGenIrs1057516573
Biobankrs1057516573
1000 genomesrs1057516573
hgdprs1057516573
ensemblrs1057516573
gopubmedrs1057516573
geneviewrs1057516573
scholarrs1057516573
googlers1057516573
pharmgkbrs1057516573
gwascentralrs1057516573
openSNPrs1057516573
23andMers1057516573
23andMe allrs1057516573
SNPshotrs1057516573
SNPdbers1057516573
MSV3drs1057516573
GWAS Ctlgrs1057516573
Max Magnitude0
ClinVar
Risk rs1057516573(A;A)
Alt rs1057516573(A;A)
Reference Rs1057516573(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.75183719G>A
CLNSRC
CLNACC RCV000409448.1,