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rs1057516392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516392(-;A)
Make rs1057516392(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89981516
GeneNBN
is asnp
is mentioned by
dbSNPrs1057516392
dbSNP (old)rs1057516392
ClinGenrs1057516392
ebirs1057516392
HLIrs1057516392
Exacrs1057516392
Gnomadrs1057516392
Varsomers1057516392
Maprs1057516392
PheGenIrs1057516392
Biobankrs1057516392
1000 genomesrs1057516392
hgdprs1057516392
ensemblrs1057516392
gopubmedrs1057516392
geneviewrs1057516392
scholarrs1057516392
googlers1057516392
pharmgkbrs1057516392
gwascentralrs1057516392
openSNPrs1057516392
23andMers1057516392
23andMe allrs1057516392
SNPshotrs1057516392
SNPdbers1057516392
MSV3drs1057516392
GWAS Ctlgrs1057516392
Max Magnitude0
ClinVar
Risk rs1057516392(A;A)
Alt rs1057516392(A;A)
Reference Rs1057516392(-;-)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90993745dupT
CLNSRC
CLNACC RCV000412330.1,