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rs387906926

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906926(A;A)
Make rs387906926(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position5075431
GeneALG1
is asnp
is mentioned by
dbSNPrs387906926
ebirs387906926
HLIrs387906926
Exacrs387906926
Varsomers387906926
Maprs387906926
PheGenIrs387906926
hapmaprs387906926
1000 genomesrs387906926
hgdprs387906926
ensemblrs387906926
gopubmedrs387906926
geneviewrs387906926
scholarrs387906926
googlers387906926
pharmgkbrs387906926
gwascentralrs387906926
openSNPrs387906926
23andMers387906926
23andMe allrs387906926
SNP Nexus

SNPshotrs387906926
SNPdbers387906926
MSV3drs387906926
GWAS Ctlgrs387906926
Max Magnitude0
ClinVar
Risk rs387906926(A;A)
Alt rs387906926(A;A)
Reference rs387906926(G;G)
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.5125432G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023494.4,