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rs387907182

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907182(C;C)
Make rs387907182(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position52024872
GeneALG11, UTP14C
is asnp
is mentioned by
dbSNPrs387907182
ebirs387907182
HLIrs387907182
Exacrs387907182
Varsomers387907182
Maprs387907182
PheGenIrs387907182
hapmaprs387907182
1000 genomesrs387907182
hgdprs387907182
ensemblrs387907182
gopubmedrs387907182
geneviewrs387907182
scholarrs387907182
googlers387907182
pharmgkbrs387907182
gwascentralrs387907182
openSNPrs387907182
23andMers387907182
23andMe allrs387907182
SNP Nexus

SNPshotrs387907182
SNPdbers387907182
MSV3drs387907182
GWAS Ctlgrs387907182
Max Magnitude0
ClinVar
Risk rs387907182(C;C)
Alt rs387907182(C;C)
Reference rs387907182(T;T)
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.52599008T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024341.3,