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rs1057516321

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516321(A;A)
Make rs1057516321(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89982721
GeneNBN
is asnp
is mentioned by
dbSNPrs1057516321
dbSNP (old)rs1057516321
ClinGenrs1057516321
ebirs1057516321
HLIrs1057516321
Exacrs1057516321
Gnomadrs1057516321
Varsomers1057516321
Maprs1057516321
PheGenIrs1057516321
Biobankrs1057516321
1000 genomesrs1057516321
hgdprs1057516321
ensemblrs1057516321
gopubmedrs1057516321
geneviewrs1057516321
scholarrs1057516321
googlers1057516321
pharmgkbrs1057516321
gwascentralrs1057516321
openSNPrs1057516321
23andMers1057516321
23andMe allrs1057516321
SNPshotrs1057516321
SNPdbers1057516321
MSV3drs1057516321
GWAS Ctlgrs1057516321
Max Magnitude0
ClinVar
Risk rs1057516321(A;A)
Alt rs1057516321(A;A)
Reference Rs1057516321(G;G)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90994949C>T
CLNSRC
CLNACC RCV000409002.1,