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rs1060503485

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503485(-;-)
Make rs1060503485(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89984536
GeneNBN
is asnp
is mentioned by
dbSNPrs1060503485
dbSNP (old)rs1060503485
ClinGenrs1060503485
ebirs1060503485
HLIrs1060503485
Exacrs1060503485
Gnomadrs1060503485
Varsomers1060503485
Maprs1060503485
PheGenIrs1060503485
Biobankrs1060503485
1000 genomesrs1060503485
hgdprs1060503485
ensemblrs1060503485
gopubmedrs1060503485
geneviewrs1060503485
scholarrs1060503485
googlers1060503485
pharmgkbrs1060503485
gwascentralrs1060503485
openSNPrs1060503485
23andMers1060503485
23andMe allrs1060503485
SNPshotrs1060503485
SNPdbers1060503485
MSV3drs1060503485
GWAS Ctlgrs1060503485
Max Magnitude0
ClinVar
Risk rs1060503485(-;-)
Alt rs1060503485(-;-)
Reference Rs1060503485(G;G)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90996764delC
CLNSRC
CLNACC RCV000458518.1,