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rs574673404

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs574673404(C;T)
Make rs574673404(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89984524
GeneNBN
is asnp
is mentioned by
dbSNPrs574673404
dbSNP (classic)rs574673404
ClinGenrs574673404
ebirs574673404
HLIrs574673404
Exacrs574673404
Gnomadrs574673404
Varsomers574673404
LitVarrs574673404
Maprs574673404
PheGenIrs574673404
Biobankrs574673404
1000 genomesrs574673404
hgdprs574673404
ensemblrs574673404
geneviewrs574673404
scholarrs574673404
googlers574673404
pharmgkbrs574673404
gwascentralrs574673404
openSNPrs574673404
23andMers574673404
SNPshotrs574673404
SNPdbers574673404
MSV3drs574673404
GWAS Ctlgrs574673404
Max Magnitude0
ClinVar
Risk rs574673404(T;T)
Alt rs574673404(T;T)
Reference Rs574673404(C;C)
Significance Probable-Pathogenic
Disease Hereditary cancer-predisposing syndrome Microcephaly
Variation info
Gene NBN
CLNDBN Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency
Reversed 0
HGVS NC_000008.10:g.90996752C>T
CLNSRC
CLNACC RCV000165888.3, RCV000470841.1,