DisGeNET - a database of gene-disease associations

Butyrylcholinesterase deficiency, C1283400

Variant: rs199660374 ×

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:

rs199660374

BCHE

0.800

GeneticVariation

CLINVAR

Three point mutations of human butyrylcholinesterase in a Japanese family and the alterations of three-dimensional structure.

10404729

1999

dbSNP:

rs199660374

BCHE

0.800

GeneticVariation

CLINVAR

Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan.

9191541

1997

dbSNP:

rs199660374

BCHE

0.800

GeneticVariation

CLINVAR

Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes.

7634491

1995

dbSNP:

rs199660374

BCHE

0.800

GeneticVariation

UNIPROT