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rs1057516332

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516332(-;A)
Make rs1057516332(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89953501
GeneNBN
is asnp
is mentioned by
dbSNPrs1057516332
dbSNP (old)rs1057516332
ClinGenrs1057516332
ebirs1057516332
HLIrs1057516332
Exacrs1057516332
Gnomadrs1057516332
Varsomers1057516332
LitVarrs1057516332
Maprs1057516332
PheGenIrs1057516332
Biobankrs1057516332
1000 genomesrs1057516332
hgdprs1057516332
ensemblrs1057516332
gopubmedrs1057516332
geneviewrs1057516332
scholarrs1057516332
googlers1057516332
pharmgkbrs1057516332
gwascentralrs1057516332
openSNPrs1057516332
23andMers1057516332
23andMe allrs1057516332
SNPshotrs1057516332
SNPdbers1057516332
MSV3drs1057516332
GWAS Ctlgrs1057516332
Max Magnitude0
ClinVar
Risk rs1057516332(A;A)
Alt rs1057516332(A;A)
Reference Rs1057516332(-;-)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90965730dupT
CLNSRC
CLNACC RCV000410169.1,