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rs864622090

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs864622090(A;T)
Make rs864622090(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89964509
GeneNBN
is asnp
is mentioned by
dbSNPrs864622090
ebirs864622090
HLIrs864622090
Exacrs864622090
Varsomers864622090
Maprs864622090
PheGenIrs864622090
hapmaprs864622090
1000 genomesrs864622090
hgdprs864622090
ensemblrs864622090
gopubmedrs864622090
geneviewrs864622090
scholarrs864622090
googlers864622090
pharmgkbrs864622090
gwascentralrs864622090
openSNPrs864622090
23andMers864622090
23andMe allrs864622090
SNP Nexus

SNPshotrs864622090
SNPdbers864622090
MSV3drs864622090
GWAS Ctlgrs864622090
Max Magnitude0
ClinVar
Risk rs864622090(T;T)
Alt rs864622090(T;T)
Reference rs864622090(A;A)
Significance Probable-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.90976737T>A
CLNSRC
CLNACC RCV000204744.1, RCV000222760.1,