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rs387907181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907181(A;C)
Make rs387907181(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position52024566
GeneALG11, UTP14C
is asnp
is mentioned by
dbSNPrs387907181
ebirs387907181
HLIrs387907181
Exacrs387907181
Varsomers387907181
Maprs387907181
PheGenIrs387907181
hapmaprs387907181
1000 genomesrs387907181
hgdprs387907181
ensemblrs387907181
gopubmedrs387907181
geneviewrs387907181
scholarrs387907181
googlers387907181
pharmgkbrs387907181
gwascentralrs387907181
openSNPrs387907181
23andMers387907181
23andMe allrs387907181
SNP Nexus

SNPshotrs387907181
SNPdbers387907181
MSV3drs387907181
GWAS Ctlgrs387907181
Max Magnitude0
ClinVar
Risk rs387907181(C;C)
Alt rs387907181(C;C)
Reference rs387907181(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.52598702A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024340.3,