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rs267606644

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606644(A;A)
Make rs267606644(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position33013353
GeneAK2
is asnp
is mentioned by
dbSNPrs267606644
dbSNP (classic)rs267606644
ClinGenrs267606644
ebirs267606644
HLIrs267606644
Exacrs267606644
Gnomadrs267606644
Varsomers267606644
LitVarrs267606644
Maprs267606644
PheGenIrs267606644
Biobankrs267606644
1000 genomesrs267606644
hgdprs267606644
ensemblrs267606644
geneviewrs267606644
scholarrs267606644
googlers267606644
pharmgkbrs267606644
gwascentralrs267606644
openSNPrs267606644
23andMers267606644
SNPshotrs267606644
SNPdbers267606644
MSV3drs267606644
GWAS Ctlgrs267606644
Max Magnitude0
ClinVar
Risk rs267606644(A;A)
Alt rs267606644(A;A)
Reference Rs267606644(T;T)
Significance Pathogenic
Disease Reticular dysgenesis
Variation info
Gene AK2
CLNDBN Reticular dysgenesis
Reversed 1
HGVS NC_000001.10:g.33478954A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019919.28,