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rs876659521

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs876659521(A;G)
Make rs876659521(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome8
Position89958856
GeneNBN
is asnp
is mentioned by
dbSNPrs876659521
ebirs876659521
HLIrs876659521
Exacrs876659521
Varsomers876659521
Maprs876659521
PheGenIrs876659521
hapmaprs876659521
1000 genomesrs876659521
hgdprs876659521
ensemblrs876659521
gopubmedrs876659521
geneviewrs876659521
scholarrs876659521
googlers876659521
pharmgkbrs876659521
gwascentralrs876659521
openSNPrs876659521
23andMers876659521
23andMe allrs876659521
SNP Nexus

SNPshotrs876659521
SNPdbers876659521
MSV3drs876659521
GWAS Ctlgrs876659521
Max Magnitude0
ClinVar
Risk rs876659521(G;G)
Alt rs876659521(G;G)
Reference rs876659521(A;A)
Significance Probable-Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Microcephaly
Variation info
Gene NBN
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90971084T>C
CLNSRC
CLNACC RCV000223218.1, RCV000231563.1,