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rs387907184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907184(A;C)
Make rs387907184(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position52024683
GeneALG11, UTP14C
is asnp
is mentioned by
dbSNPrs387907184
ebirs387907184
HLIrs387907184
Exacrs387907184
Varsomers387907184
Maprs387907184
PheGenIrs387907184
hapmaprs387907184
1000 genomesrs387907184
hgdprs387907184
ensemblrs387907184
gopubmedrs387907184
geneviewrs387907184
scholarrs387907184
googlers387907184
pharmgkbrs387907184
gwascentralrs387907184
openSNPrs387907184
23andMers387907184
23andMe allrs387907184
SNP Nexus

SNPshotrs387907184
SNPdbers387907184
MSV3drs387907184
GWAS Ctlgrs387907184
Max Magnitude0
ClinVar
Risk rs387907184(C;C)
Alt rs387907184(C;C)
Reference rs387907184(A;A)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1P
Variation info
Gene ALG11 UTP14C
CLNDBN Congenital disorder of glycosylation type 1P
Reversed 0
HGVS NC_000013.10:g.52598819A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024343.3,