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rs387906925

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906925(A;G)
Make rs387906925(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position5082615
GeneALG1
is asnp
is mentioned by
dbSNPrs387906925
dbSNP (classic)rs387906925
ClinGenrs387906925
ebirs387906925
HLIrs387906925
Exacrs387906925
Gnomadrs387906925
Varsomers387906925
LitVarrs387906925
Maprs387906925
PheGenIrs387906925
Biobankrs387906925
1000 genomesrs387906925
hgdprs387906925
ensemblrs387906925
geneviewrs387906925
scholarrs387906925
googlers387906925
pharmgkbrs387906925
gwascentralrs387906925
openSNPrs387906925
23andMers387906925
SNPshotrs387906925
SNPdbers387906925
MSV3drs387906925
GWAS Ctlgrs387906925
Max Magnitude0
ClinVar
Risk rs387906925(G;G)
Alt rs387906925(G;G)
Reference Rs387906925(A;A)
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.5132616A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023493.4,