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rs267606645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606645(C;T)
Make rs267606645(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position33013345
GeneAK2
is asnp
is mentioned by
dbSNPrs267606645
ebirs267606645
HLIrs267606645
Exacrs267606645
Varsomers267606645
Maprs267606645
PheGenIrs267606645
hapmaprs267606645
1000 genomesrs267606645
hgdprs267606645
ensemblrs267606645
gopubmedrs267606645
geneviewrs267606645
scholarrs267606645
googlers267606645
pharmgkbrs267606645
gwascentralrs267606645
openSNPrs267606645
23andMers267606645
23andMe allrs267606645
SNP Nexus

SNPshotrs267606645
SNPdbers267606645
MSV3drs267606645
GWAS Ctlgrs267606645
Max Magnitude0
ClinVar
Risk rs267606645(T;T)
Alt rs267606645(T;T)
Reference rs267606645(C;C)
Significance Pathogenic
Disease Reticular dysgenesis
Variation info
Gene AK2
CLNDBN Reticular dysgenesis
Reversed 1
HGVS NC_000001.10:g.33478946G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019920.27,