rs118204451

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs118204451(C;G)

Make rs118204451(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219158194

Gene

NHEJ1

is a	snp
is	mentioned by
dbSNP	rs118204451
dbSNP (classic)	rs118204451
ClinGen	rs118204451
ebi	rs118204451
HLI	rs118204451
Exac	rs118204451
Gnomad	rs118204451
Varsome	rs118204451
LitVar	rs118204451
Map	rs118204451
PheGenI	rs118204451
Biobank	rs118204451
1000 genomes	rs118204451
hgdp	rs118204451
ensembl	rs118204451
geneview	rs118204451
scholar	rs118204451
google	rs118204451
pharmgkb	rs118204451
gwascentral	rs118204451
openSNP	rs118204451
23andMe	rs118204451
SNPshot	rs118204451
SNPdbe	rs118204451
MSV3d	rs118204451
GWAS Ctlg	rs118204451

Max Magnitude

0

OMIM	611290
Desc
Variant	0001
Related	also

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,