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rs1057516787

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516787(-;-)
Make rs1057516787(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89978273
GeneNBN
is asnp
is mentioned by
dbSNPrs1057516787
dbSNP (old)rs1057516787
ClinGenrs1057516787
ebirs1057516787
HLIrs1057516787
Exacrs1057516787
Gnomadrs1057516787
Varsomers1057516787
LitVarrs1057516787
Maprs1057516787
PheGenIrs1057516787
Biobankrs1057516787
1000 genomesrs1057516787
hgdprs1057516787
ensemblrs1057516787
gopubmedrs1057516787
geneviewrs1057516787
scholarrs1057516787
googlers1057516787
pharmgkbrs1057516787
gwascentralrs1057516787
openSNPrs1057516787
23andMers1057516787
23andMe allrs1057516787
SNPshotrs1057516787
SNPdbers1057516787
MSV3drs1057516787
GWAS Ctlgrs1057516787
Max Magnitude0
ClinVar
Risk rs1057516787(-;-)
Alt rs1057516787(-;-)
Reference Rs1057516787(T;T)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90990501delA
CLNSRC
CLNACC RCV000409476.1,