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rs749911553

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs749911553(C;T)
Make rs749911553(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position74896208
GeneMPI
is asnp
is mentioned by
dbSNPrs749911553
dbSNP (classic)rs749911553
ClinGenrs749911553
ebirs749911553
HLIrs749911553
Exacrs749911553
Gnomadrs749911553
Varsomers749911553
LitVarrs749911553
Maprs749911553
PheGenIrs749911553
Biobankrs749911553
1000 genomesrs749911553
hgdprs749911553
ensemblrs749911553
geneviewrs749911553
scholarrs749911553
googlers749911553
pharmgkbrs749911553
gwascentralrs749911553
openSNPrs749911553
23andMers749911553
SNPshotrs749911553
SNPdbers749911553
MSV3drs749911553
GWAS Ctlgrs749911553
Max Magnitude0
ClinVar
Risk rs749911553(T;T)
Alt rs749911553(T;T)
Reference Rs749911553(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.75188549C>T
CLNSRC
CLNACC RCV000410979.1,