DisGeNET - a database of gene-disease associations

CACNA1A, calcium voltage-gated channel subunit alpha1 A, 773

N. diseases: 320; N. variants: 106

Disease: Abnormal delivery ×

Variant: rs1057519429 ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057519429

rs1057519429

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

CUI:	C0549629
Disease:

Abnormal delivery

G

0.700

GeneticVariation

CLINVAR