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rs118204453

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204453(C;T)
Make rs118204453(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219146736
GeneNHEJ1
is asnp
is mentioned by
dbSNPrs118204453
ebirs118204453
HLIrs118204453
Exacrs118204453
Varsomers118204453
Maprs118204453
PheGenIrs118204453
hapmaprs118204453
1000 genomesrs118204453
hgdprs118204453
ensemblrs118204453
gopubmedrs118204453
geneviewrs118204453
scholarrs118204453
googlers118204453
pharmgkbrs118204453
gwascentralrs118204453
openSNPrs118204453
23andMers118204453
23andMe allrs118204453
SNP Nexus

SNPshotrs118204453
SNPdbers118204453
MSV3drs118204453
GWAS Ctlgrs118204453
Max Magnitude0
OMIM611290
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118204453(T;T)
Alt rs118204453(T;T)
Reference rs118204453(C;C)
Significance Pathogenic
Disease Severe combined immunodeficiency with microcephaly
Variation info
Gene NHEJ1
CLNDBN Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
Reversed 1
HGVS NC_000002.11:g.220011458G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001034.2,