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rs759579169

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs759579169(A;A)
Make rs759579169(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position74893137
GeneMPI
is asnp
is mentioned by
dbSNPrs759579169
dbSNP (classic)rs759579169
ClinGenrs759579169
ebirs759579169
HLIrs759579169
Exacrs759579169
Gnomadrs759579169
Varsomers759579169
LitVarrs759579169
Maprs759579169
PheGenIrs759579169
Biobankrs759579169
1000 genomesrs759579169
hgdprs759579169
ensemblrs759579169
geneviewrs759579169
scholarrs759579169
googlers759579169
pharmgkbrs759579169
gwascentralrs759579169
openSNPrs759579169
23andMers759579169
SNPshotrs759579169
SNPdbers759579169
MSV3drs759579169
GWAS Ctlgrs759579169
Max Magnitude0
ClinVar
Risk rs759579169(A;A) rs759579169(C;C)
Alt rs759579169(A;A) rs759579169(C;C)
Reference Rs759579169(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.75185478G>A; NC_000015.9:g.75185478G>C
CLNSRC
CLNACC RCV000411493.1, RCV000412150.1,