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rs864622143

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864622143(C;T)
Make rs864622143(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89953342
GeneNBN
is asnp
is mentioned by
dbSNPrs864622143
ebirs864622143
HLIrs864622143
Exacrs864622143
Varsomers864622143
Maprs864622143
PheGenIrs864622143
hapmaprs864622143
1000 genomesrs864622143
hgdprs864622143
ensemblrs864622143
gopubmedrs864622143
geneviewrs864622143
scholarrs864622143
googlers864622143
pharmgkbrs864622143
gwascentralrs864622143
openSNPrs864622143
23andMers864622143
23andMe allrs864622143
SNP Nexus

SNPshotrs864622143
SNPdbers864622143
MSV3drs864622143
GWAS Ctlgrs864622143
Max Magnitude0
ClinVar
Risk rs864622143(T;T)
Alt rs864622143(T;T)
Reference rs864622143(C;C)
Significance Pathogenic
Disease Microcephaly Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000008.10:g.90965570G>A
CLNSRC
CLNACC RCV000206506.1, RCV000217030.1,