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rs1060503480

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503480(C;G)
Make rs1060503480(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89953536
GeneNBN
is asnp
is mentioned by
dbSNPrs1060503480
dbSNP (old)rs1060503480
ClinGenrs1060503480
ebirs1060503480
HLIrs1060503480
Exacrs1060503480
Gnomadrs1060503480
Varsomers1060503480
Maprs1060503480
PheGenIrs1060503480
Biobankrs1060503480
1000 genomesrs1060503480
hgdprs1060503480
ensemblrs1060503480
gopubmedrs1060503480
geneviewrs1060503480
scholarrs1060503480
googlers1060503480
pharmgkbrs1060503480
gwascentralrs1060503480
openSNPrs1060503480
23andMers1060503480
23andMe allrs1060503480
SNPshotrs1060503480
SNPdbers1060503480
MSV3drs1060503480
GWAS Ctlgrs1060503480
Max Magnitude0
ClinVar
Risk rs1060503480(G;G)
Alt rs1060503480(G;G)
Reference Rs1060503480(C;C)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90965764G>C
CLNSRC
CLNACC RCV000473949.1,