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rs864622511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864622511(-;-)
Make rs864622511(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89982778
GeneNBN
is asnp
is mentioned by
dbSNPrs864622511
dbSNP (old)rs864622511
ClinGenrs864622511
ebirs864622511
HLIrs864622511
Exacrs864622511
Gnomadrs864622511
Varsomers864622511
Maprs864622511
PheGenIrs864622511
Biobankrs864622511
1000 genomesrs864622511
hgdprs864622511
ensemblrs864622511
gopubmedrs864622511
geneviewrs864622511
scholarrs864622511
googlers864622511
pharmgkbrs864622511
gwascentralrs864622511
openSNPrs864622511
23andMers864622511
23andMe allrs864622511
SNP Nexus

SNPshotrs864622511
SNPdbers864622511
MSV3drs864622511
GWAS Ctlgrs864622511
Max Magnitude0
ClinVar
Risk rs864622511(-;-)
Alt rs864622511(-;-)
Reference Rs864622511(C;C)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90995006delG
CLNSRC
CLNACC RCV000204010.1,