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rs587781969

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587781969(-;-)
Make rs587781969(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position89955538
GeneNBN
is asnp
is mentioned by
dbSNPrs587781969
ClinGenrs587781969
ebirs587781969
HLIrs587781969
Exacrs587781969
Varsomers587781969
Maprs587781969
PheGenIrs587781969
hapmaprs587781969
1000 genomesrs587781969
hgdprs587781969
ensemblrs587781969
gopubmedrs587781969
geneviewrs587781969
scholarrs587781969
googlers587781969
pharmgkbrs587781969
gwascentralrs587781969
openSNPrs587781969
23andMers587781969
23andMe allrs587781969
SNP Nexus

SNPshotrs587781969
SNPdbers587781969
MSV3drs587781969
GWAS Ctlgrs587781969
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs587781969(C;C)
Significance Pathogenic
Disease Microcephaly Hereditary cancer-predisposing syndrome not provided
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000008.10:g.90967766delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007358.5, RCV000130355.3, RCV000220768.2,