{{Rsnum
|rsid=8046121
|Gene=CIITA
|Chromosome=16
|position=10902076
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.01056
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=CIITA
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 7.3 | 92.7
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 10.9 | 89.1
| CHB | 0.0 | 0.0 | 0.0
| CHD | 0.0 | 1.9 | 98.1
| GIH | 0.0 | 1.0 | 99.0
| LWK | 0.0 | 12.8 | 87.2
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 5.3 | 94.7
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=8046121
|allele=G
|frequency=1
|uid=1103645424926
|type=homozygous_SNP
|hugo=CIITA
|ensembl gene=ENSG00000179583
|ensembl transcript=ENST00000324288
|sift=TOLERATED
|disease=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
|gene=CIITA
|aa_change=Arg174Gly
|aa_change_short=R174G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs8046121
|overall_frequency_n=10576
|overall_frequency_d=10758
|overall_frequency=0.983082
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=107
|n_articles=0
|n_articles_annotated=0
|nblosum100=6
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}