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rs121908002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908002(C;T)
Make rs121908002(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position43778238
GeneIRAK4
is asnp
is mentioned by
dbSNPrs121908002
ebirs121908002
HLIrs121908002
Exacrs121908002
Varsomers121908002
Maprs121908002
PheGenIrs121908002
hapmaprs121908002
1000 genomesrs121908002
hgdprs121908002
ensemblrs121908002
gopubmedrs121908002
geneviewrs121908002
scholarrs121908002
googlers121908002
pharmgkbrs121908002
gwascentralrs121908002
openSNPrs121908002
23andMers121908002
23andMe allrs121908002
SNP Nexus

SNPshotrs121908002
SNPdbers121908002
MSV3drs121908002
GWAS Ctlgrs121908002
Max Magnitude0
OMIM606883
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908002(T;T)
Alt rs121908002(T;T)
Reference rs121908002(C;C)
Significance Pathogenic
Disease IRAK4 deficiency
Variation info
Gene IRAK4
CLNDBN IRAK4 deficiency
Reversed 0
HGVS NC_000012.11:g.44172041C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004043.3,