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rs730881857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730881857(C;G)
Make rs730881857(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position89943320
GeneNBN
is asnp
is mentioned by
dbSNPrs730881857
dbSNP (classic)rs730881857
ClinGenrs730881857
ebirs730881857
HLIrs730881857
Exacrs730881857
Gnomadrs730881857
Varsomers730881857
LitVarrs730881857
Maprs730881857
PheGenIrs730881857
Biobankrs730881857
1000 genomesrs730881857
hgdprs730881857
ensemblrs730881857
geneviewrs730881857
scholarrs730881857
googlers730881857
pharmgkbrs730881857
gwascentralrs730881857
openSNPrs730881857
23andMers730881857
SNPshotrs730881857
SNPdbers730881857
MSV3drs730881857
GWAS Ctlgrs730881857
Max Magnitude0
ClinVar
Risk rs730881857(G;G)
Alt rs730881857(G;G)
Reference Rs730881857(C;C)
Significance Other
Disease Hereditary cancer-predisposing syndrome not provided Microcephaly
Variation info
Gene NBN
CLNDBN Hereditary cancer-predisposing syndrome not provided Microcephaly, normal intelligence and immunodeficiency
Reversed 1
HGVS NC_000008.10:g.90955548G>C
CLNSRC
CLNACC RCV000160795.5, RCV000212754.1, RCV000409031.1,