DisGeNET - a database of gene-disease associations

Normokalemic Periodic Paralysis, Potassium-Sensitive, C1868433

Variant: rs80338959 ×

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:

rs80338959

rs80338959

SCN4A

C

0.700

CausalMutation

CLINVAR

A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.

1997

dbSNP:

rs80338959

rs80338959

SCN4A

C

0.700

GeneticVariation

CLINVAR