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rs28989186

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28989186(C;T)
Make rs28989186(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40176672
GeneBUB1B
is asnp
is mentioned by
dbSNPrs28989186
ebirs28989186
HLIrs28989186
Exacrs28989186
Varsomers28989186
Maprs28989186
PheGenIrs28989186
hapmaprs28989186
1000 genomesrs28989186
hgdprs28989186
ensemblrs28989186
gopubmedrs28989186
geneviewrs28989186
scholarrs28989186
googlers28989186
pharmgkbrs28989186
gwascentralrs28989186
openSNPrs28989186
23andMers28989186
23andMe allrs28989186
SNP Nexus

SNPshotrs28989186
SNPdbers28989186
MSV3drs28989186
GWAS Ctlgrs28989186
Max Magnitude0
OMIM602860
DescMOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Variant0003
Relatedalso


ClinVar
Risk rs28989186(T;T)
Alt rs28989186(T;T)
Reference rs28989186(C;C)
Significance Other
Disease Mosaic variegated aneuploidy syndrome Premature chromatid separation trait
Variation info
Gene BUB1B
CLNDBN Mosaic variegated aneuploidy syndrome Premature chromatid separation trait
Reversed 0
HGVS NC_000015.9:g.40468873C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007152.5, RCV000007153.5,



[PMID 18852891OA-icon.png] Distribution and effects of nonsense polymorphisms in human genes.