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rs1057519586

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519586(-;-)
Make rs1057519586(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position89971194
GeneNBN
is asnp
is mentioned by
dbSNPrs1057519586
dbSNP (old)rs1057519586
ClinGenrs1057519586
ebirs1057519586
HLIrs1057519586
Exacrs1057519586
Gnomadrs1057519586
Varsomers1057519586
LitVarrs1057519586
Maprs1057519586
PheGenIrs1057519586
Biobankrs1057519586
1000 genomesrs1057519586
hgdprs1057519586
ensemblrs1057519586
gopubmedrs1057519586
geneviewrs1057519586
scholarrs1057519586
googlers1057519586
pharmgkbrs1057519586
gwascentralrs1057519586
openSNPrs1057519586
23andMers1057519586
23andMe allrs1057519586
SNPshotrs1057519586
SNPdbers1057519586
MSV3drs1057519586
GWAS Ctlgrs1057519586
Max Magnitude0
ClinVar
Risk rs1057519586(-;-)
Alt rs1057519586(-;-)
Reference Rs1057519586(T;T)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90983422delA
CLNSRC
CLNACC RCV000417079.1,