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rs267606643

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606643(A;G)
Make rs267606643(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position33014526
GeneAK2
is asnp
is mentioned by
dbSNPrs267606643
ebirs267606643
HLIrs267606643
Exacrs267606643
Varsomers267606643
Maprs267606643
PheGenIrs267606643
hapmaprs267606643
1000 genomesrs267606643
hgdprs267606643
ensemblrs267606643
gopubmedrs267606643
geneviewrs267606643
scholarrs267606643
googlers267606643
pharmgkbrs267606643
gwascentralrs267606643
openSNPrs267606643
23andMers267606643
23andMe allrs267606643
SNP Nexus

SNPshotrs267606643
SNPdbers267606643
MSV3drs267606643
GWAS Ctlgrs267606643
Max Magnitude0
ClinVar
Risk rs267606643(G;G)
Alt rs267606643(G;G)
Reference rs267606643(A;A)
Significance Pathogenic
Disease Reticular dysgenesis
Variation info
Gene AK2
CLNDBN Reticular dysgenesis
Reversed 1
HGVS NC_000001.10:g.33480127T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019918.27,