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rs12768894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs12768894(C;C)
Make rs12768894(C;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position14932906
GeneDCLRE1C
is asnp
is mentioned by
dbSNPrs12768894
ebirs12768894
HLIrs12768894
Exacrs12768894
Varsomers12768894
Maprs12768894
PheGenIrs12768894
hapmaprs12768894
1000 genomesrs12768894
hgdprs12768894
ensemblrs12768894
gopubmedrs12768894
geneviewrs12768894
scholarrs12768894
googlers12768894
pharmgkbrs12768894
gwascentralrs12768894
openSNPrs12768894
23andMers12768894
23andMe allrs12768894
SNP Nexus

SNPshotrs12768894
SNPdbers12768894
MSV3drs12768894
GWAS Ctlgrs12768894
GMAF0.1299
Max Magnitude0
Venter snp
Source plos
Gene DCLRE1C
allele C
frequency
sift AFFECT FUNCTION
HuRef 1103649870716
Disease Association Defects in DCLRE1C are a cause of Omenn Syndrome (MIM:603554). Omenn syndrome is characterized by severe combined immunodeficiency associated with erythrodermia, hepatosplenomegaly, lymphadenopathy and alopecia. Affected individuals have elevated T-lymphocyte counts with a restricted T- cell receptor (TCR) repertoire. They also generally lack B- lymphocytes, but have normal natural killer (NK) cell function (T+ B- NK+).



GET Evidence
DCLRE1C-H243R
aa_change His243Arg
aa_change_short H243R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.142685
summary