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rs1057516869

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs1057516869(AA;T)
Make rs1057516869(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89946160
GeneNBN
is asnp
is mentioned by
dbSNPrs1057516869
dbSNP (old)rs1057516869
ClinGenrs1057516869
ebirs1057516869
HLIrs1057516869
Exacrs1057516869
Gnomadrs1057516869
Varsomers1057516869
Maprs1057516869
PheGenIrs1057516869
Biobankrs1057516869
1000 genomesrs1057516869
hgdprs1057516869
ensemblrs1057516869
gopubmedrs1057516869
geneviewrs1057516869
scholarrs1057516869
googlers1057516869
pharmgkbrs1057516869
gwascentralrs1057516869
openSNPrs1057516869
23andMers1057516869
23andMe allrs1057516869
SNPshotrs1057516869
SNPdbers1057516869
MSV3drs1057516869
GWAS Ctlgrs1057516869
Max Magnitude0
ClinVar
Risk rs1057516869(T;T)
Alt rs1057516869(T;T)
Reference Rs1057516869(AA;AA)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90958388_90958389delTTinsA
CLNSRC
CLNACC RCV000410853.1,