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rs1060503467

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503467(-;-)
Make rs1060503467(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89955282
GeneNBN
is asnp
is mentioned by
dbSNPrs1060503467
dbSNP (old)rs1060503467
ClinGenrs1060503467
ebirs1060503467
HLIrs1060503467
Exacrs1060503467
Gnomadrs1060503467
Varsomers1060503467
LitVarrs1060503467
Maprs1060503467
PheGenIrs1060503467
Biobankrs1060503467
1000 genomesrs1060503467
hgdprs1060503467
ensemblrs1060503467
gopubmedrs1060503467
geneviewrs1060503467
scholarrs1060503467
googlers1060503467
pharmgkbrs1060503467
gwascentralrs1060503467
openSNPrs1060503467
23andMers1060503467
23andMe allrs1060503467
SNPshotrs1060503467
SNPdbers1060503467
MSV3drs1060503467
GWAS Ctlgrs1060503467
Max Magnitude0
ClinVar
Risk rs1060503467(-;-)
Alt rs1060503467(-;-)
Reference Rs1060503467(G;G)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90967510delC
CLNSRC
CLNACC RCV000469494.1,