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rs864622253

From SNPedia

Orientationminus
Make rs864622253(-;-)
Make rs864622253(-;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89982799
GeneNBN
is asnp
is mentioned by
dbSNPrs864622253
ebirs864622253
HLIrs864622253
Exacrs864622253
Varsomers864622253
Maprs864622253
PheGenIrs864622253
hapmaprs864622253
1000 genomesrs864622253
hgdprs864622253
ensemblrs864622253
gopubmedrs864622253
geneviewrs864622253
scholarrs864622253
googlers864622253
pharmgkbrs864622253
gwascentralrs864622253
openSNPrs864622253
23andMers864622253
23andMe allrs864622253
SNP Nexus

SNPshotrs864622253
SNPdbers864622253
MSV3drs864622253
GWAS Ctlgrs864622253
Max Magnitude
ClinVar
Risk rs864622253(;)
Alt rs864622253(;)
Reference rs864622253(TG;TG)
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.90995027_90995028delCA
CLNSRC
CLNACC RCV000206712.1, RCV000221111.1,