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rs112321280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs112321280(A;G)
Make rs112321280(G;G)
ReferenceGRCh37 37.1/132
Chromosome9
Position336714
GeneDOCK8
is asnp
is mentioned by
dbSNPrs112321280
ebirs112321280
HLIrs112321280
Exacrs112321280
Varsomers112321280
Maprs112321280
PheGenIrs112321280
hapmaprs112321280
1000 genomesrs112321280
hgdprs112321280
ensemblrs112321280
gopubmedrs112321280
geneviewrs112321280
scholarrs112321280
googlers112321280
pharmgkbrs112321280
gwascentralrs112321280
openSNPrs112321280
23andMers112321280
23andMe allrs112321280
SNP Nexus

SNPshotrs112321280
SNPdbers112321280
MSV3drs112321280
GWAS Ctlgrs112321280
Max Magnitude0
OMIM611432
Desc
Variant0001
Relatedalso
ClinVar
Risk rs112321280(G;G)
Alt rs112321280(G;G)
Reference rs112321280(A;A)
Significance Pathogenic
Disease Hyperimmunoglobulin E recurrent infection syndrome
Variation info
Gene DOCK8
CLNDBN Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
Reversed 0
HGVS NC_000009.11:g.336714A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000999.2,