Have questions? Visit https://www.reddit.com/r/SNPedia

rs864309669

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864309669(-;T)
Make rs864309669(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89970417
GeneNBN
is asnp
is mentioned by
dbSNPrs864309669
dbSNP (old)rs864309669
ClinGenrs864309669
ebirs864309669
HLIrs864309669
Exacrs864309669
Gnomadrs864309669
Varsomers864309669
Maprs864309669
PheGenIrs864309669
Biobankrs864309669
1000 genomesrs864309669
hgdprs864309669
ensemblrs864309669
gopubmedrs864309669
geneviewrs864309669
scholarrs864309669
googlers864309669
pharmgkbrs864309669
gwascentralrs864309669
openSNPrs864309669
23andMers864309669
23andMe allrs864309669
SNP Nexus

SNPshotrs864309669
SNPdbers864309669
MSV3drs864309669
GWAS Ctlgrs864309669
Max Magnitude0
ClinVar
Risk rs864309669(T;T)
Alt rs864309669(T;T)
Reference Rs864309669(-;-)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90982646dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000007357.4,