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rs587782130

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587782130(C;T)
Make rs587782130(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position89953615
GeneNBN
is asnp
is mentioned by
dbSNPrs587782130
ebirs587782130
HLIrs587782130
Exacrs587782130
Varsomers587782130
Maprs587782130
PheGenIrs587782130
hapmaprs587782130
1000 genomesrs587782130
hgdprs587782130
ensemblrs587782130
gopubmedrs587782130
geneviewrs587782130
scholarrs587782130
googlers587782130
pharmgkbrs587782130
gwascentralrs587782130
openSNPrs587782130
23andMers587782130
23andMe allrs587782130
SNP Nexus

SNPshotrs587782130
SNPdbers587782130
MSV3drs587782130
GWAS Ctlgrs587782130
Max Magnitude0
ClinVar
Risk rs587782130(T;T)
Alt rs587782130(T;T)
Reference rs587782130(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene NBN
CLNDBN Hereditary cancer-predisposing syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000008.10:g.90965843G>A; NC_000008.10:g.90965843G>T
CLNSRC
CLNACC RCV000130673.2, RCV000213507.1,