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rs7197779

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs7197779(A;A)
Make rs7197779(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position10909070
GeneCIITA
is asnp
is mentioned by
dbSNPrs7197779
ebirs7197779
HLIrs7197779
Exacrs7197779
Varsomers7197779
Maprs7197779
PheGenIrs7197779
hapmaprs7197779
1000 genomesrs7197779
hgdprs7197779
ensemblrs7197779
gopubmedrs7197779
geneviewrs7197779
scholarrs7197779
googlers7197779
pharmgkbrs7197779
gwascentralrs7197779
openSNPrs7197779
23andMers7197779
23andMe allrs7197779
SNP Nexus

SNPshotrs7197779
SNPdbers7197779
MSV3drs7197779
GWAS Ctlgrs7197779
GMAF0.05372
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene CIITA
allele G
frequency
sift TOLERATED
HuRef 1103645424932
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-Q900R
aa_change Gln900Arg
aa_change_short Q900R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.918851
summary