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rs118204451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118204451(C;G)
Make rs118204451(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219158194
GeneNHEJ1
is asnp
is mentioned by
dbSNPrs118204451
ebirs118204451
HLIrs118204451
Exacrs118204451
Varsomers118204451
Maprs118204451
PheGenIrs118204451
hapmaprs118204451
1000 genomesrs118204451
hgdprs118204451
ensemblrs118204451
gopubmedrs118204451
geneviewrs118204451
scholarrs118204451
googlers118204451
pharmgkbrs118204451
gwascentralrs118204451
openSNPrs118204451
23andMers118204451
23andMe allrs118204451
SNP Nexus

SNPshotrs118204451
SNPdbers118204451
MSV3drs118204451
GWAS Ctlgrs118204451
Max Magnitude0
OMIM611290
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118204451(G;G)
Alt rs118204451(G;G)
Reference Rs118204451(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.220022916G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001032.2,