DisGeNET - a database of gene-disease associations

Myoclonic dystonia, C1834570

Variant: rs184841813 ×

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:

rs184841813

rs184841813

CACNA1B

0.010

GeneticVariation

BEFREE

These results do not support a causal association between the CACNA1B c.4166G>A; (p.R1389H) variant and M-D.

2015