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rs587782545

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587782545(A;T)
Make rs587782545(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position89947835
GeneNBN
is asnp
is mentioned by
dbSNPrs587782545
ebirs587782545
HLIrs587782545
Exacrs587782545
Varsomers587782545
Maprs587782545
PheGenIrs587782545
hapmaprs587782545
1000 genomesrs587782545
hgdprs587782545
ensemblrs587782545
gopubmedrs587782545
geneviewrs587782545
scholarrs587782545
googlers587782545
pharmgkbrs587782545
gwascentralrs587782545
openSNPrs587782545
23andMers587782545
23andMe allrs587782545
SNP Nexus

SNPshotrs587782545
SNPdbers587782545
MSV3drs587782545
GWAS Ctlgrs587782545
Max Magnitude0
ClinVar
Risk rs587782545(T;T)
Alt rs587782545(T;T)
Reference rs587782545(A;A)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Microcephaly
Variation info
Gene NBN
CLNDBN Hereditary cancer-predisposing syndrome not provided Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90960063T>A
CLNSRC
CLNACC RCV000131755.2, RCV000219708.1, RCV000227700.1,