DisGeNET - a database of gene-disease associations

rs774214806, GRM1

N. diseases: 2

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Cerebellar Ataxia

CUI:	C0007758
Disease:	Cerebellar Ataxia

120

1.000

6

146159536

stop gained

C/A;T

snv

1.6E-05

0.700

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13

CUI:	C3553816
Disease:	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13

1

1.000

6

146159536

stop gained

C/A;T

snv

1.6E-05

0.700