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rs118204452

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204452(C;C)
Make rs118204452(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position219157495
GeneNHEJ1
is asnp
is mentioned by
dbSNPrs118204452
ebirs118204452
HLIrs118204452
Exacrs118204452
Varsomers118204452
Maprs118204452
PheGenIrs118204452
hapmaprs118204452
1000 genomesrs118204452
hgdprs118204452
ensemblrs118204452
gopubmedrs118204452
geneviewrs118204452
scholarrs118204452
googlers118204452
pharmgkbrs118204452
gwascentralrs118204452
openSNPrs118204452
23andMers118204452
23andMe allrs118204452
SNP Nexus

SNPshotrs118204452
SNPdbers118204452
MSV3drs118204452
GWAS Ctlgrs118204452
Max Magnitude0
OMIM611290
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118204452(C;C)
Alt rs118204452(C;C)
Reference rs118204452(T;T)
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.220022217A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001033.4,