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rs786201745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786201745(G;T)
Make rs786201745(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89953366
GeneNBN
is asnp
is mentioned by
dbSNPrs786201745
dbSNP (classic)rs786201745
ClinGenrs786201745
ebirs786201745
HLIrs786201745
Exacrs786201745
Gnomadrs786201745
Varsomers786201745
LitVarrs786201745
Maprs786201745
PheGenIrs786201745
Biobankrs786201745
1000 genomesrs786201745
hgdprs786201745
ensemblrs786201745
geneviewrs786201745
scholarrs786201745
googlers786201745
pharmgkbrs786201745
gwascentralrs786201745
openSNPrs786201745
23andMers786201745
SNPshotrs786201745
SNPdbers786201745
MSV3drs786201745
GWAS Ctlgrs786201745
Max Magnitude0
ClinVar
Risk rs786201745(T;T)
Alt rs786201745(T;T)
Reference Rs786201745(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Microcephaly
Variation info
Gene NBN
CLNDBN Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90965594C>A
CLNSRC
CLNACC RCV000164194.1, RCV000456402.1,