Have questions? Visit https://www.reddit.com/r/SNPedia

rs28989182

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28989182(A;A)
Make rs28989182(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40212554
GeneBUB1B, LOC107984763
is asnp
is mentioned by
dbSNPrs28989182
dbSNP (classic)rs28989182
ClinGenrs28989182
ebirs28989182
HLIrs28989182
Exacrs28989182
Gnomadrs28989182
Varsomers28989182
LitVarrs28989182
Maprs28989182
PheGenIrs28989182
Biobankrs28989182
1000 genomesrs28989182
hgdprs28989182
ensemblrs28989182
geneviewrs28989182
scholarrs28989182
googlers28989182
pharmgkbrs28989182
gwascentralrs28989182
openSNPrs28989182
23andMers28989182
SNPshotrs28989182
SNPdbers28989182
MSV3drs28989182
GWAS Ctlgrs28989182
Max Magnitude0
OMIM602860
DescMOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Variant0007
Relatedalso


ClinVar
Risk rs28989182(A;A)
Alt rs28989182(A;A)
Reference Rs28989182(G;G)
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.40504755G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007160.4, RCV000007161.5,