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rs267606648

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606648(A;A)
Make rs267606648(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position33021616
GeneAK2
is asnp
is mentioned by
dbSNPrs267606648
ebirs267606648
HLIrs267606648
Exacrs267606648
Varsomers267606648
Maprs267606648
PheGenIrs267606648
hapmaprs267606648
1000 genomesrs267606648
hgdprs267606648
ensemblrs267606648
gopubmedrs267606648
geneviewrs267606648
scholarrs267606648
googlers267606648
pharmgkbrs267606648
gwascentralrs267606648
openSNPrs267606648
23andMers267606648
23andMe allrs267606648
SNP Nexus

SNPshotrs267606648
SNPdbers267606648
MSV3drs267606648
GWAS Ctlgrs267606648
Max Magnitude0
ClinVar
Risk rs267606648(A,T;A,T)
Alt rs267606648(A,T;A,T)
Reference rs267606648(C;C)
Significance Pathogenic
Disease Reticular dysgenesis
Variation info
Gene AK2
CLNDBN Reticular dysgenesis
Reversed 1
HGVS NC_000001.10:g.33487217G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019922.27,