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rs869312169

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869312169(-;-)
Make rs869312169(-;T)
Make rs869312169(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position452068
GeneDOCK8
is asnp
is mentioned by
dbSNPrs869312169
ebirs869312169
HLIrs869312169
Exacrs869312169
Varsomers869312169
Maprs869312169
PheGenIrs869312169
hapmaprs869312169
1000 genomesrs869312169
hgdprs869312169
ensemblrs869312169
gopubmedrs869312169
geneviewrs869312169
scholarrs869312169
googlers869312169
pharmgkbrs869312169
gwascentralrs869312169
openSNPrs869312169
23andMers869312169
23andMe allrs869312169
SNP Nexus

SNPshotrs869312169
SNPdbers869312169
MSV3drs869312169
GWAS Ctlgrs869312169
Max Magnitude0
ClinVar
Risk rs869312169(T;T)
Alt rs869312169(T;T)
Reference rs869312169(;)
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.452068dupT
CLNSRC
CLNACC RCV000210045.1,