GRM6, glutamate metabotropic receptor 6, 2916

N. diseases: 28; N. variants: 16
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62638625
rs62638625
Entrez Id: 2916
Gene Symbol: GRM6
GRM6
CUI: C1850362
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		0.800 GeneticVariation UNIPROT Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. 23714322 2013
dbSNP: rs62638625
rs62638625
Entrez Id: 2916
Gene Symbol: GRM6
GRM6
CUI: C1850362
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		0.800 GeneticVariation UNIPROT Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. 17405131 2007
dbSNP: rs62638625
rs62638625
Entrez Id: 2916
Gene Symbol: GRM6
GRM6
CUI: C1850362
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		0.800 GeneticVariation UNIPROT Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. 15781871 2005
dbSNP: rs62638625
rs62638625
Entrez Id: 2916
Gene Symbol: GRM6
GRM6
CUI: C1850362
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 		T 0.800 CausalMutation CLINVAR