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rs786204593

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786204593(-;-)
Make rs786204593(-;C)
Make rs786204593(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position74891400
GeneMPI
is asnp
is mentioned by
dbSNPrs786204593
ebirs786204593
HLIrs786204593
Exacrs786204593
Varsomers786204593
Maprs786204593
PheGenIrs786204593
hapmaprs786204593
1000 genomesrs786204593
hgdprs786204593
ensemblrs786204593
gopubmedrs786204593
geneviewrs786204593
scholarrs786204593
googlers786204593
pharmgkbrs786204593
gwascentralrs786204593
openSNPrs786204593
23andMers786204593
23andMe allrs786204593
SNP Nexus

SNPshotrs786204593
SNPdbers786204593
MSV3drs786204593
GWAS Ctlgrs786204593
Max Magnitude0
ClinVar
Risk rs786204593(C;C)
Alt rs786204593(C;C)
Reference rs786204593(;)
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.75183741dupC
CLNSRC Counsyl
CLNACC RCV000169342.1,