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rs762664474

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs762664474(-;TC)
Make rs762664474(TC;TC)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89981483
GeneNBN
is asnp
is mentioned by
dbSNPrs762664474
dbSNP (old)rs762664474
ClinGenrs762664474
ebirs762664474
HLIrs762664474
Exacrs762664474
Gnomadrs762664474
Varsomers762664474
Maprs762664474
PheGenIrs762664474
Biobankrs762664474
1000 genomesrs762664474
hgdprs762664474
ensemblrs762664474
gopubmedrs762664474
geneviewrs762664474
scholarrs762664474
googlers762664474
pharmgkbrs762664474
gwascentralrs762664474
openSNPrs762664474
23andMers762664474
23andMe allrs762664474
SNP Nexus

SNPshotrs762664474
SNPdbers762664474
MSV3drs762664474
GWAS Ctlgrs762664474
Max Magnitude0
ClinVar
Risk rs762664474(TC;TC)
Alt rs762664474(TC;TC)
Reference Rs762664474(-;-)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 0
HGVS NC_000008.10:g.90993711_90993712insTC
CLNSRC
CLNACC RCV000200419.2,