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rs786201965

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786201965(C;C)
Make rs786201965(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position89943367
GeneNBN
is asnp
is mentioned by
dbSNPrs786201965
dbSNP (old)rs786201965
ClinGenrs786201965
ebirs786201965
HLIrs786201965
Exacrs786201965
Gnomadrs786201965
Varsomers786201965
Maprs786201965
PheGenIrs786201965
Biobankrs786201965
1000 genomesrs786201965
hgdprs786201965
ensemblrs786201965
gopubmedrs786201965
geneviewrs786201965
scholarrs786201965
googlers786201965
pharmgkbrs786201965
gwascentralrs786201965
openSNPrs786201965
23andMers786201965
23andMe allrs786201965
SNP Nexus

SNPshotrs786201965
SNPdbers786201965
MSV3drs786201965
GWAS Ctlgrs786201965
Max Magnitude0
ClinVar
Risk rs786201965(A;A) rs786201965(C;C)
Alt rs786201965(A;A) rs786201965(C;C)
Reference Rs786201965(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Microcephaly not provided
Variation info
Gene NBN
CLNDBN Hereditary cancer-predisposing syndrome Microcephaly, normal intelligence and immunodeficiency not provided
Reversed 1
HGVS NC_000008.10:g.90955595C>G; NC_000008.10:g.90955595C>T
CLNSRC
CLNACC RCV000164521.1, RCV000409665.1, RCV000483747.1, RCV000217514.1, RCV000222103.1,