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rs1057516852

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057516852(-;-)
Make rs1057516852(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89946209
GeneNBN
is asnp
is mentioned by
dbSNPrs1057516852
dbSNP (old)rs1057516852
ClinGenrs1057516852
ebirs1057516852
HLIrs1057516852
Exacrs1057516852
Gnomadrs1057516852
Varsomers1057516852
Maprs1057516852
PheGenIrs1057516852
Biobankrs1057516852
1000 genomesrs1057516852
hgdprs1057516852
ensemblrs1057516852
gopubmedrs1057516852
geneviewrs1057516852
scholarrs1057516852
googlers1057516852
pharmgkbrs1057516852
gwascentralrs1057516852
openSNPrs1057516852
23andMers1057516852
23andMe allrs1057516852
SNPshotrs1057516852
SNPdbers1057516852
MSV3drs1057516852
GWAS Ctlgrs1057516852
Max Magnitude0
ClinVar
Risk rs1057516852(-;-)
Alt rs1057516852(-;-)
Reference Rs1057516852(CT;CT)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90958437_90958438delAG
CLNSRC
CLNACC RCV000410892.1,