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rs387906927

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906927(A;A)
Make rs387906927(A;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position5083682
GeneALG1
is asnp
is mentioned by
dbSNPrs387906927
ebirs387906927
HLIrs387906927
Exacrs387906927
Varsomers387906927
Maprs387906927
PheGenIrs387906927
hapmaprs387906927
1000 genomesrs387906927
hgdprs387906927
ensemblrs387906927
gopubmedrs387906927
geneviewrs387906927
scholarrs387906927
googlers387906927
pharmgkbrs387906927
gwascentralrs387906927
openSNPrs387906927
23andMers387906927
23andMe allrs387906927
SNP Nexus

SNPshotrs387906927
SNPdbers387906927
MSV3drs387906927
GWAS Ctlgrs387906927
Max Magnitude0
ClinVar
Risk rs387906927(A;A)
Alt rs387906927(A;A)
Reference rs387906927(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1K
Variation info
Gene ALG1
CLNDBN Congenital disorder of glycosylation type 1K
Reversed 0
HGVS NC_000016.9:g.5133683T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023495.4,