DisGeNET - a database of gene-disease associations

CACNA1S, calcium voltage-gated channel subunit alpha1 S, 779

N. diseases: 118; N. variants: 22

Disease: Hypokalemic periodic paralysis type 1 ×

Variant: rs1553252746 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1553252746

rs1553252746

Entrez Id:	779
Gene Symbol:	CACNA1S

CACNA1S

CUI:	C3714580
Disease:

Hypokalemic periodic paralysis type 1

T

0.700

CausalMutation

CLINVAR