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rs28989181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28989181(C;T)
Make rs28989181(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position40212643
GeneBUB1B
is asnp
is mentioned by
dbSNPrs28989181
ebirs28989181
HLIrs28989181
Exacrs28989181
Varsomers28989181
Maprs28989181
PheGenIrs28989181
hapmaprs28989181
1000 genomesrs28989181
hgdprs28989181
ensemblrs28989181
gopubmedrs28989181
geneviewrs28989181
scholarrs28989181
googlers28989181
pharmgkbrs28989181
gwascentralrs28989181
openSNPrs28989181
23andMers28989181
23andMe allrs28989181
SNP Nexus

SNPshotrs28989181
SNPdbers28989181
MSV3drs28989181
GWAS Ctlgrs28989181
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM602860
DescMOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Variant0004
Relatedalso
Neighborrs28989182
Distance89


ClinVar
Risk rs28989181(T;T)
Alt rs28989181(T;T)
Reference rs28989181(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.40504844C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007154.4, RCV000007155.5,