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rs121908973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908973(C;T)
Make rs121908973(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position89964428
GeneNBN
is asnp
is mentioned by
dbSNPrs121908973
ebirs121908973
HLIrs121908973
Exacrs121908973
Varsomers121908973
Maprs121908973
PheGenIrs121908973
hapmaprs121908973
1000 genomesrs121908973
hgdprs121908973
ensemblrs121908973
gopubmedrs121908973
geneviewrs121908973
scholarrs121908973
googlers121908973
pharmgkbrs121908973
gwascentralrs121908973
openSNPrs121908973
23andMers121908973
23andMe allrs121908973
SNP Nexus

SNPshotrs121908973
SNPdbers121908973
MSV3drs121908973
GWAS Ctlgrs121908973
Max Magnitude0
OMIM602667
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908973(T;T)
Alt rs121908973(T;T)
Reference rs121908973(C;C)
Significance Pathogenic
Disease Microcephaly Hereditary cancer-predisposing syndrome
Variation info
Gene NBN
CLNDBN Microcephaly, normal intelligence and immunodeficiency Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000008.10:g.90976656G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007359.4, RCV000166946.1,