DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs138877187 ×

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:

rs138877187

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

20522430

2010

dbSNP:

rs138877187

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

16541393

2006

dbSNP:

rs138877187

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

17054684

2006