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rs8046121

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs8046121(A;A)
Make rs8046121(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position10902076
GeneCIITA
is asnp
is mentioned by
dbSNPrs8046121
ebirs8046121
HLIrs8046121
Exacrs8046121
Varsomers8046121
Maprs8046121
PheGenIrs8046121
hapmaprs8046121
1000 genomesrs8046121
hgdprs8046121
ensemblrs8046121
gopubmedrs8046121
geneviewrs8046121
scholarrs8046121
googlers8046121
pharmgkbrs8046121
gwascentralrs8046121
openSNPrs8046121
23andMers8046121
23andMe allrs8046121
SNP Nexus

SNPshotrs8046121
SNPdbers8046121
MSV3drs8046121
GWAS Ctlgrs8046121
GMAF0.01056
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene CIITA
allele G
frequency 1
sift TOLERATED
HuRef 1103645424926
Disease Association Defects in CIITA are a cause of bare lymphocyte syndrome type II (BLS II) (MIM:209920); also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS II is a form of severe combined immunodeficiency disease (SCID) characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, an absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. CIITA is linked with BLS II complementation group A.



GET Evidence
CIITA-R174G
aa_change Arg174Gly
aa_change_short R174G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.983082
summary