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rs730881864

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730881864(C;T)
Make rs730881864(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position89943297
GeneNBN
is asnp
is mentioned by
dbSNPrs730881864
ebirs730881864
HLIrs730881864
Exacrs730881864
Varsomers730881864
Maprs730881864
PheGenIrs730881864
hapmaprs730881864
1000 genomesrs730881864
hgdprs730881864
ensemblrs730881864
gopubmedrs730881864
geneviewrs730881864
scholarrs730881864
googlers730881864
pharmgkbrs730881864
gwascentralrs730881864
openSNPrs730881864
23andMers730881864
23andMe allrs730881864
SNP Nexus

SNPshotrs730881864
SNPdbers730881864
MSV3drs730881864
GWAS Ctlgrs730881864
Max Magnitude0
ClinVar
Risk rs730881864(G,T;G,T)
Alt rs730881864(G,T;G,T)
Reference rs730881864(C;C)
Significance Pathogenic
Disease not provided Microcephaly Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene NBN
CLNDBN not provided Microcephaly, normal intelligence and immunodeficiency Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000008.10:g.90955525G>A
CLNSRC
CLNACC RCV000160804.2, RCV000204431.1, RCV000215628.1,