rs28989185

Orientation

plus

Stabilized

plus

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

Make rs28989185(C;C)

Make rs28989185(C;T)

Reference

GRCh38 38.1/142

Chromosome

15

Position

40220641

Gene	BUB1B, BUB1B-PAK6, LOC107984763

is a	snp
is	mentioned by
dbSNP	rs28989185
dbSNP (classic)	rs28989185
ClinGen	rs28989185
ebi	rs28989185
HLI	rs28989185
Exac	rs28989185
Gnomad	rs28989185
Varsome	rs28989185
LitVar	rs28989185
Map	rs28989185
PheGenI	rs28989185
Biobank	rs28989185
1000 genomes	rs28989185
hgdp	rs28989185
ensembl	rs28989185
geneview	rs28989185
scholar	rs28989185
google	rs28989185
pharmgkb	rs28989185
gwascentral	rs28989185
openSNP	rs28989185
23andMe	rs28989185
SNPshot	rs28989185
SNPdbe	rs28989185
MSV3d	rs28989185
GWAS Ctlg	rs28989185

Max Magnitude

0

OMIM	602860
Desc	MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Variant	0008
Related	also

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 UniProtKB (protein)
CLNACC	RCV000007162.4, RCV000007163.5,