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rs35441642

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs35441642(C;C)
Make rs35441642(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position14934728
GeneDCLRE1C
is asnp
is mentioned by
dbSNPrs35441642
ebirs35441642
HLIrs35441642
Exacrs35441642
Varsomers35441642
Maprs35441642
PheGenIrs35441642
hapmaprs35441642
1000 genomesrs35441642
hgdprs35441642
ensemblrs35441642
gopubmedrs35441642
geneviewrs35441642
scholarrs35441642
googlers35441642
pharmgkbrs35441642
gwascentralrs35441642
openSNPrs35441642
23andMers35441642
23andMe allrs35441642
SNP Nexus

SNPshotrs35441642
SNPdbers35441642
MSV3drs35441642
GWAS Ctlgrs35441642
GMAF0.1253
Max Magnitude0
Venter snp
Source plos
Gene DCLRE1C
allele C
frequency
sift AFFECT FUNCTION
HuRef 1103649870711
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+).



ClinVar
Risk rs35441642(C;C)
Alt rs35441642(C;C)
Reference rs35441642(G;G)
Significance Non-pathogenic
Disease Severe combined immunodeficiency disease
Variation info
Gene DCLRE1C
CLNDBN Severe combined immunodeficiency disease
Reversed 0
HGVS NC_000010.10:g.14976727G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029657.1,



GET Evidence
DCLRE1C-P171R
aa_change Pro171Arg
aa_change_short P171R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0928611
summary