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rs267606647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606647(G;T)
Make rs267606647(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position33036804
GeneAK2
is asnp
is mentioned by
dbSNPrs267606647
ebirs267606647
HLIrs267606647
Exacrs267606647
Varsomers267606647
Maprs267606647
PheGenIrs267606647
hapmaprs267606647
1000 genomesrs267606647
hgdprs267606647
ensemblrs267606647
gopubmedrs267606647
geneviewrs267606647
scholarrs267606647
googlers267606647
pharmgkbrs267606647
gwascentralrs267606647
openSNPrs267606647
23andMers267606647
23andMe allrs267606647
SNP Nexus

SNPshotrs267606647
SNPdbers267606647
MSV3drs267606647
GWAS Ctlgrs267606647
Max Magnitude0
ClinVar
Risk rs267606647(A;A)
Alt rs267606647(A;A)
Reference rs267606647(G;G)
Significance Pathogenic
Disease Reticular dysgenesis
Variation info
Gene AK2
CLNDBN Reticular dysgenesis
Reversed 1
HGVS NC_000001.10:g.33502405C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019924.26,