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rs864622333

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864622333(-;AGAAATGTCTTCA)
Make rs864622333(AGAAATGTCTTCA;AGAAATGTCTTCA)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89953657
GeneNBN
is asnp
is mentioned by
dbSNPrs864622333
dbSNP (old)rs864622333
ClinGenrs864622333
ebirs864622333
HLIrs864622333
Exacrs864622333
Varsomers864622333
Maprs864622333
PheGenIrs864622333
Biobankrs864622333
1000 genomesrs864622333
hgdprs864622333
ensemblrs864622333
gopubmedrs864622333
geneviewrs864622333
scholarrs864622333
googlers864622333
pharmgkbrs864622333
gwascentralrs864622333
openSNPrs864622333
23andMers864622333
23andMe allrs864622333
SNP Nexus

SNPshotrs864622333
SNPdbers864622333
MSV3drs864622333
GWAS Ctlgrs864622333
Max Magnitude0
ClinVar
Risk rs864622333(AGAAATGTCTTCA;AGAAATGTCTTCA)
Alt rs864622333(AGAAATGTCTTCA;AGAAATGTCTTCA)
Reference Rs864622333(-;-)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90965886_90965898dupTGAAGACATTTCT
CLNSRC
CLNACC RCV000205695.1,