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rs387907183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907183(A;A)
Make rs387907183(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position52024922
GeneALG11, UTP14C
is asnp
is mentioned by
dbSNPrs387907183
ebirs387907183
HLIrs387907183
Exacrs387907183
Varsomers387907183
Maprs387907183
PheGenIrs387907183
hapmaprs387907183
1000 genomesrs387907183
hgdprs387907183
ensemblrs387907183
gopubmedrs387907183
geneviewrs387907183
scholarrs387907183
googlers387907183
pharmgkbrs387907183
gwascentralrs387907183
openSNPrs387907183
23andMers387907183
23andMe allrs387907183
SNP Nexus

SNPshotrs387907183
SNPdbers387907183
MSV3drs387907183
GWAS Ctlgrs387907183
Max Magnitude0
ClinVar
Risk rs387907183(A;A)
Alt rs387907183(A;A)
Reference rs387907183(G;G)
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.52599058G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024342.4,