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rs28989185

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28989185(C;C)
Make rs28989185(C;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position40220641
GeneBUB1B, PAK6
is asnp
is mentioned by
dbSNPrs28989185
ebirs28989185
HLIrs28989185
Exacrs28989185
Varsomers28989185
Maprs28989185
PheGenIrs28989185
hapmaprs28989185
1000 genomesrs28989185
hgdprs28989185
ensemblrs28989185
gopubmedrs28989185
geneviewrs28989185
scholarrs28989185
googlers28989185
pharmgkbrs28989185
gwascentralrs28989185
openSNPrs28989185
23andMers28989185
23andMe allrs28989185
SNP Nexus

SNPshotrs28989185
SNPdbers28989185
MSV3drs28989185
GWAS Ctlgrs28989185
Max Magnitude0
OMIM602860
DescMOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Variant0008
Relatedalso


ClinVar
Risk rs28989185(C;C)
Alt rs28989185(C;C)
Reference rs28989185(T;T)
Significance Other
Disease Mosaic variegated aneuploidy syndrome Premature chromatid separation trait
Variation info
Gene BUB1B-PAK6 BUB1B
CLNDBN Mosaic variegated aneuploidy syndrome Premature chromatid separation trait
Reversed 0
HGVS NC_000015.9:g.40512842T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007162.4, RCV000007163.5,