DisGeNET - a database of gene-disease associations

ADGRV1, adhesion G protein-coupled receptor V1, 84059

N. diseases: 125; N. variants: 55

Disease: FEBRILE CONVULSIONS, FAMILIAL, 4 ×

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:

rs121909761

1.000

0.080

90705508

stop gained

C/A

snv

CUI:	C1858493
Disease:	FEBRILE CONVULSIONS, FAMILIAL, 4

FEBRILE CONVULSIONS, FAMILIAL, 4

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

dbSNP:

rs121909762

0.851

0.200

90690991

stop gained

C/G;T

snv

4.0E-06; 4.8E-05

CUI:	C1858493
Disease:	FEBRILE CONVULSIONS, FAMILIAL, 4

FEBRILE CONVULSIONS, FAMILIAL, 4

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

dbSNP:

rs373780305

0.925

0.200

90642886

stop gained

C/T

snv

3.3E-05

1.4E-05

CUI:	C1858493
Disease:	FEBRILE CONVULSIONS, FAMILIAL, 4

FEBRILE CONVULSIONS, FAMILIAL, 4

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700

dbSNP:

rs747622607

0.925

0.200

90848679

stop gained

C/T

snv

4.9E-06

2.1E-05

CUI:	C1858493
Disease:	FEBRILE CONVULSIONS, FAMILIAL, 4

FEBRILE CONVULSIONS, FAMILIAL, 4

Pathological Conditions, Signs and Symptoms; Nervous System Diseases

0.700