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rs113944762

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113944762(-;-)
Make rs113944762(-;C)
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position407033
GeneDOCK8
is asnp
is mentioned by
dbSNPrs113944762
dbSNP (old)rs113944762
ClinGenrs113944762
ebirs113944762
HLIrs113944762
Exacrs113944762
Gnomadrs113944762
Varsomers113944762
LitVarrs113944762
Maprs113944762
PheGenIrs113944762
Biobankrs113944762
1000 genomesrs113944762
hgdprs113944762
ensemblrs113944762
gopubmedrs113944762
geneviewrs113944762
scholarrs113944762
googlers113944762
pharmgkbrs113944762
gwascentralrs113944762
openSNPrs113944762
23andMers113944762
23andMe allrs113944762
SNPshotrs113944762
SNPdbers113944762
MSV3drs113944762
GWAS Ctlgrs113944762
Max Magnitude0
ClinVar
Risk rs113944762(-;-)
Alt rs113944762(-;-)
Reference Rs113944762(C;C)
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.407033delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000054450.2,