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rs1057516668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516668(-;-)
Make rs1057516668(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89946236
GeneNBN
is asnp
is mentioned by
dbSNPrs1057516668
dbSNP (old)rs1057516668
ClinGenrs1057516668
ebirs1057516668
HLIrs1057516668
Exacrs1057516668
Gnomadrs1057516668
Varsomers1057516668
Maprs1057516668
PheGenIrs1057516668
Biobankrs1057516668
1000 genomesrs1057516668
hgdprs1057516668
ensemblrs1057516668
gopubmedrs1057516668
geneviewrs1057516668
scholarrs1057516668
googlers1057516668
pharmgkbrs1057516668
gwascentralrs1057516668
openSNPrs1057516668
23andMers1057516668
23andMe allrs1057516668
SNPshotrs1057516668
SNPdbers1057516668
MSV3drs1057516668
GWAS Ctlgrs1057516668
Max Magnitude0
ClinVar
Risk rs1057516668(-;-)
Alt rs1057516668(-;-)
Reference Rs1057516668(A;A)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90958464delT
CLNSRC
CLNACC RCV000411916.1,