DisGeNET - a database of gene-disease associations

Mosaic variegated aneuploidy syndrome 1, C1850343

Variant: rs28989181 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28989181

rs28989181

BUB1B ; LOC107984763

0.800

GeneticVariation

UNIPROT

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

2004

dbSNP:

rs28989181

rs28989181

BUB1B ; LOC107984763

T

0.800

CausalMutation

CLINVAR