DisGeNET - a database of gene-disease associations

Primary Adrenal Insufficiency, C3887896

Variant: rs6161 ×

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:

rs6161

rs6161

CYP11A1

0.010

GeneticVariation

BEFREE

The CYP11A1 p.E314K variant impairs P450scc stability and is a possible cause of PAI in childhood.

2019