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rs121908974

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908974(A;A)
Make rs121908974(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position89958760
GeneNBN
is asnp
is mentioned by
dbSNPrs121908974
dbSNP (classic)rs121908974
ClinGenrs121908974
ebirs121908974
HLIrs121908974
Exacrs121908974
Gnomadrs121908974
Varsomers121908974
LitVarrs121908974
Maprs121908974
PheGenIrs121908974
Biobankrs121908974
1000 genomesrs121908974
hgdprs121908974
ensemblrs121908974
geneviewrs121908974
scholarrs121908974
googlers121908974
pharmgkbrs121908974
gwascentralrs121908974
openSNPrs121908974
23andMers121908974
SNPshotrs121908974
SNPdbers121908974
MSV3drs121908974
GWAS Ctlgrs121908974
Max Magnitude0
OMIM602667
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908974(A;A) rs121908974(T;T)
Alt rs121908974(A;A) rs121908974(T;T)
Reference Rs121908974(C;C)
Significance Other
Disease Hereditary cancer-predisposing syndrome Microcephaly not specified
Variation info
Gene NBN
CLNDBN Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not specified
Reversed 1
HGVS NC_000008.10:g.90970988G>A; NC_000008.10:g.90970988G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000160770.5, RCV000196191.4, RCV000212742.3, RCV000007362.3,