DisGeNET - a database of gene-disease associations

BTN2A3P, butyrophilin subfamily 2 member A3, pseudogene, 54718

N. diseases: 1; N. variants: 1

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs4320356

1.000

0.120

26423332

non coding transcript exon variant

C/T

snv

0.54

CUI:	C0011854
Disease:	Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus, Insulin-Dependent

Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases

0.710

1.000

2019