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rs267606646

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606646(A;T)
Make rs267606646(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position33013204
GeneAK2
is asnp
is mentioned by
dbSNPrs267606646
ebirs267606646
HLIrs267606646
Exacrs267606646
Varsomers267606646
Maprs267606646
PheGenIrs267606646
hapmaprs267606646
1000 genomesrs267606646
hgdprs267606646
ensemblrs267606646
gopubmedrs267606646
geneviewrs267606646
scholarrs267606646
googlers267606646
pharmgkbrs267606646
gwascentralrs267606646
openSNPrs267606646
23andMers267606646
23andMe allrs267606646
SNP Nexus

SNPshotrs267606646
SNPdbers267606646
MSV3drs267606646
GWAS Ctlgrs267606646
Max Magnitude0
ClinVar
Risk rs267606646(T;T)
Alt rs267606646(T;T)
Reference rs267606646(A;A)
Significance Pathogenic
Disease Reticular dysgenesis
Variation info
Gene AK2
CLNDBN Reticular dysgenesis
Reversed 1
HGVS NC_000001.10:g.33478805T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019923.27,