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rs587781891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587781891(-;-)
Make rs587781891(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position89982770
GeneNBN
is asnp
is mentioned by
dbSNPrs587781891
dbSNP (classic)rs587781891
ClinGenrs587781891
ebirs587781891
HLIrs587781891
Exacrs587781891
Gnomadrs587781891
Varsomers587781891
LitVarrs587781891
Maprs587781891
PheGenIrs587781891
Biobankrs587781891
1000 genomesrs587781891
hgdprs587781891
ensemblrs587781891
geneviewrs587781891
scholarrs587781891
googlers587781891
pharmgkbrs587781891
gwascentralrs587781891
openSNPrs587781891
23andMers587781891
SNPshotrs587781891
SNPdbers587781891
MSV3drs587781891
GWAS Ctlgrs587781891
Max Magnitude0
ClinVar
Risk rs587781891(-;-)
Alt rs587781891(-;-)
Reference Rs587781891(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Microcephaly not provided
Variation info
Gene NBN
CLNDBN Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not provided
Reversed 1
HGVS NC_000008.10:g.90994998delG
CLNSRC
CLNACC RCV000130227.2, RCV000466522.1, RCV000482320.1,