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rs28989187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28989187(A;A)
Make rs28989187(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40202609
GeneBUB1B, LOC107984763
is asnp
is mentioned by
dbSNPrs28989187
dbSNP (classic)rs28989187
ClinGenrs28989187
ebirs28989187
HLIrs28989187
Exacrs28989187
Gnomadrs28989187
Varsomers28989187
LitVarrs28989187
Maprs28989187
PheGenIrs28989187
Biobankrs28989187
1000 genomesrs28989187
hgdprs28989187
ensemblrs28989187
geneviewrs28989187
scholarrs28989187
googlers28989187
pharmgkbrs28989187
gwascentralrs28989187
openSNPrs28989187
23andMers28989187
SNPshotrs28989187
SNPdbers28989187
MSV3drs28989187
GWAS Ctlgrs28989187
GMAF0.005051
Max Magnitude0
? (A;A) (A;G) (G;G) 28


OMIM602860
DescMOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Variant0009
Relatedalso


ClinVar
Risk rs28989187(A;A)
Alt rs28989187(A;A)
Reference Rs28989187(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.40494810G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007164.3, RCV000007165.4,