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rs1057516611

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516611(-;-)
Make rs1057516611(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89947890
GeneNBN
is asnp
is mentioned by
dbSNPrs1057516611
dbSNP (old)rs1057516611
ClinGenrs1057516611
ebirs1057516611
HLIrs1057516611
Exacrs1057516611
Gnomadrs1057516611
Varsomers1057516611
Maprs1057516611
PheGenIrs1057516611
Biobankrs1057516611
1000 genomesrs1057516611
hgdprs1057516611
ensemblrs1057516611
gopubmedrs1057516611
geneviewrs1057516611
scholarrs1057516611
googlers1057516611
pharmgkbrs1057516611
gwascentralrs1057516611
openSNPrs1057516611
23andMers1057516611
23andMe allrs1057516611
SNPshotrs1057516611
SNPdbers1057516611
MSV3drs1057516611
GWAS Ctlgrs1057516611
Max Magnitude0
ClinVar
Risk rs1057516611(-;-)
Alt rs1057516611(-;-)
Reference Rs1057516611(A;A)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90960118delT
CLNSRC
CLNACC RCV000411194.1,