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rs864309668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGAC;AGAC) 0 common in clinvar
Make rs864309668(-;-)
Make rs864309668(-;CAGA)
Make rs864309668(CAGA;CAGA)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89970422
GeneNBN
is asnp
is mentioned by
dbSNPrs864309668
dbSNP (old)rs864309668
ClinGenrs864309668
ebirs864309668
HLIrs864309668
Exacrs864309668
Gnomadrs864309668
Varsomers864309668
Maprs864309668
PheGenIrs864309668
Biobankrs864309668
1000 genomesrs864309668
hgdprs864309668
ensemblrs864309668
gopubmedrs864309668
geneviewrs864309668
scholarrs864309668
googlers864309668
pharmgkbrs864309668
gwascentralrs864309668
openSNPrs864309668
23andMers864309668
23andMe allrs864309668
SNP Nexus

SNPshotrs864309668
SNPdbers864309668
MSV3drs864309668
GWAS Ctlgrs864309668
Max Magnitude0
ClinVar
Risk rs864309668(-;-)
Alt rs864309668(-;-)
Reference Rs864309668(AGAC;AGAC)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90982650_90982653delTCTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007356.4,