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

rs864309670

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs864309670(-;GG)
Make rs864309670(GG;GG)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89970517
GeneNBN
is asnp
is mentioned by
dbSNPrs864309670
ClinGenrs864309670
ebirs864309670
HLIrs864309670
Exacrs864309670
Varsomers864309670
Maprs864309670
PheGenIrs864309670
hapmaprs864309670
1000 genomesrs864309670
hgdprs864309670
ensemblrs864309670
gopubmedrs864309670
geneviewrs864309670
scholarrs864309670
googlers864309670
pharmgkbrs864309670
gwascentralrs864309670
openSNPrs864309670
23andMers864309670
23andMe allrs864309670
SNP Nexus

SNPshotrs864309670
SNPdbers864309670
MSV3drs864309670
GWAS Ctlgrs864309670
Max Magnitude0
ClinVar
Risk rs864309670(GG;GG)
Alt rs864309670(GG;GG)
Reference Rs864309670(;)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90982746_90982747dupCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007364.4,