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rs28989183

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28989183(C;C)
Make rs28989183(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position40217580
GeneBUB1B, PAK6
is asnp
is mentioned by
dbSNPrs28989183
ebirs28989183
HLIrs28989183
Exacrs28989183
Varsomers28989183
Maprs28989183
PheGenIrs28989183
hapmaprs28989183
1000 genomesrs28989183
hgdprs28989183
ensemblrs28989183
gopubmedrs28989183
geneviewrs28989183
scholarrs28989183
googlers28989183
pharmgkbrs28989183
gwascentralrs28989183
openSNPrs28989183
23andMers28989183
23andMe allrs28989183
SNP Nexus

SNPshotrs28989183
SNPdbers28989183
MSV3drs28989183
GWAS Ctlgrs28989183
Max Magnitude0
OMIM602860
DescMOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Variant0005
Relatedalso


ClinVar
Risk rs28989183(C;C)
Alt rs28989183(C;C)
Reference rs28989183(G;G)
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.40509781G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007156.4, RCV000007157.5,