rs28989183

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs28989183(C;C)

Make rs28989183(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

40217580

Gene	BUB1B, BUB1B-PAK6, LOC107984763

is a	snp
is	mentioned by
dbSNP	rs28989183
dbSNP (classic)	rs28989183
ClinGen	rs28989183
ebi	rs28989183
HLI	rs28989183
Exac	rs28989183
Gnomad	rs28989183
Varsome	rs28989183
LitVar	rs28989183
Map	rs28989183
PheGenI	rs28989183
Biobank	rs28989183
1000 genomes	rs28989183
hgdp	rs28989183
ensembl	rs28989183
geneview	rs28989183
scholar	rs28989183
google	rs28989183
pharmgkb	rs28989183
gwascentral	rs28989183
openSNP	rs28989183
23andMe	rs28989183
SNPshot	rs28989183
SNPdbe	rs28989183
MSV3d	rs28989183
GWAS Ctlg	rs28989183

Max Magnitude

0

OMIM	602860
Desc	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Variant	0005
Related	also

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 UniProtKB (protein)
CLNACC	RCV000007156.4, RCV000007157.5,