DisGeNET - a database of gene-disease associations

Indifference to Pain, Congenital, Autosomal Recessive, C1855739

Variant: rs794729216 ×

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:

rs794729216

SCN9A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

17470132

2007

dbSNP:

rs794729216

SCN9A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

An SCN9A channelopathy causes congenital inability to experience pain.

17167479

2006