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rs794727301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794727301(G;G)
Make rs794727301(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position5073004
GeneALG1
is asnp
is mentioned by
dbSNPrs794727301
dbSNP (classic)rs794727301
ClinGenrs794727301
ebirs794727301
HLIrs794727301
Exacrs794727301
Gnomadrs794727301
Varsomers794727301
LitVarrs794727301
Maprs794727301
PheGenIrs794727301
Biobankrs794727301
1000 genomesrs794727301
hgdprs794727301
ensemblrs794727301
geneviewrs794727301
scholarrs794727301
googlers794727301
pharmgkbrs794727301
gwascentralrs794727301
openSNPrs794727301
23andMers794727301
SNPshotrs794727301
SNPdbers794727301
MSV3drs794727301
GWAS Ctlgrs794727301
Max Magnitude0
ClinVar
Risk rs794727301(G;G)
Alt rs794727301(G;G)
Reference Rs794727301(T;T)
Significance Probable-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.5123005T>G
CLNSRC
CLNACC RCV000175915.1,