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rs41297018

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs41297018(A;A)
Make rs41297018(A;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position14935470
GeneDCLRE1C
is asnp
is mentioned by
dbSNPrs41297018
ebirs41297018
HLIrs41297018
Exacrs41297018
Varsomers41297018
Maprs41297018
PheGenIrs41297018
hapmaprs41297018
1000 genomesrs41297018
hgdprs41297018
ensemblrs41297018
gopubmedrs41297018
geneviewrs41297018
scholarrs41297018
googlers41297018
pharmgkbrs41297018
gwascentralrs41297018
openSNPrs41297018
23andMers41297018
23andMe allrs41297018
SNP Nexus

SNPshotrs41297018
SNPdbers41297018
MSV3drs41297018
GWAS Ctlgrs41297018
GMAF0.009642
Max Magnitude0
ClinVar
Risk rs41297018(A,T;A,T)
Alt rs41297018(A,T;A,T)
Reference rs41297018(G;G)
Significance Probable-Pathogenic
Disease Severe combined immunodeficiency disease not provided
Variation info
Gene DCLRE1C
CLNDBN Severe combined immunodeficiency disease not provided
Reversed 1
HGVS NC_000010.10:g.14977469C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029656.1, RCV000224125.1,



[PMID 18223550] Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients.


[PMID 19953608] The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.