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rs267606652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606652(C;C)
Make rs267606652(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position52019125
GeneALG11
is asnp
is mentioned by
dbSNPrs267606652
dbSNP (classic)rs267606652
ClinGenrs267606652
ebirs267606652
HLIrs267606652
Exacrs267606652
Gnomadrs267606652
Varsomers267606652
LitVarrs267606652
Maprs267606652
PheGenIrs267606652
Biobankrs267606652
1000 genomesrs267606652
hgdprs267606652
ensemblrs267606652
geneviewrs267606652
scholarrs267606652
googlers267606652
pharmgkbrs267606652
gwascentralrs267606652
openSNPrs267606652
23andMers267606652
SNPshotrs267606652
SNPdbers267606652
MSV3drs267606652
GWAS Ctlgrs267606652
Max Magnitude0
ClinVar
Risk rs267606652(C;C)
Alt rs267606652(C;C)
Reference Rs267606652(T;T)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 1P
Variation info
Gene ALG11
CLNDBN Congenital disorder of glycosylation type 1P
Reversed 0
HGVS NC_000013.10:g.52593261T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000004.2,