GPR179, G protein-coupled receptor 179, 440435

N. diseases: 23; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875234
rs281875234
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 GeneticVariation UNIPROT Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. 22325361 2012
dbSNP: rs281875234
rs281875234
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 GeneticVariation UNIPROT GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. 22325362 2012
dbSNP: rs281875236
rs281875236
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 GeneticVariation UNIPROT Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. 22325361 2012
dbSNP: rs281875236
rs281875236
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.800 GeneticVariation UNIPROT GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. 22325362 2012
dbSNP: rs281875234
rs281875234
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		A 0.800 CausalMutation CLINVAR
dbSNP: rs281875236
rs281875236
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1567725425
rs1567725425
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		G 0.700 GeneticVariation CLINVAR Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. 22325361 2012
dbSNP: rs281875233
rs281875233
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 GeneticVariation UNIPROT Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. 22325361 2012
dbSNP: rs281875233
rs281875233
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 GeneticVariation UNIPROT GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. 22325362 2012
dbSNP: rs281875235
rs281875235
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 GeneticVariation UNIPROT GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. 22325362 2012
dbSNP: rs281875235
rs281875235
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		0.700 GeneticVariation UNIPROT Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. 22325361 2012
dbSNP: rs770066665
rs770066665
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C0339535
Disease:
Night blindness, congenital stationary 		A 0.700 CausalMutation CLINVAR Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. 22325361 2012
dbSNP: rs770066665
rs770066665
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C0339535
Disease:
Night blindness, congenital stationary 		A 0.700 CausalMutation CLINVAR GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. 22325362 2012
dbSNP: rs1200683561
rs1200683561
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C0339535
Disease:
Night blindness, congenital stationary 		GGT 0.700 GeneticVariation CLINVAR
dbSNP: rs1567728372
rs1567728372
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		TGA 0.700 CausalMutation CLINVAR
dbSNP: rs387907138
rs387907138
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		A 0.700 CausalMutation CLINVAR
dbSNP: rs770066665
rs770066665
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		A 0.700 CausalMutation CLINVAR
dbSNP: rs773126191
rs773126191
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		T 0.700 CausalMutation CLINVAR
dbSNP: rs794726685
rs794726685
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		T 0.700 CausalMutation CLINVAR
dbSNP: rs794726686
rs794726686
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C3281215
Disease:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886043488
rs886043488
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C0339535
Disease:
Night blindness, congenital stationary 		GTAGATCA 0.700 GeneticVariation CLINVAR
dbSNP: rs281875234
rs281875234
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C0339535
Disease:
Night blindness, congenital stationary 		0.010 GeneticVariation BEFREE Whole-exome sequencing in cCSNB patients lacking mutations in the known genes led to the identification of a homozygous missense mutation (c.1807C>T [p.His603Tyr]) in one consanguineous autosomal-recessive cCSNB family and a homozygous frameshift mutation in GPR179 (c.278delC [p.Pro93Glnfs(∗)57]) in a simplex male cCSNB patient. 22325361 2012
dbSNP: rs794726685
rs794726685
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
CUI: C0339535
Disease:
Night blindness, congenital stationary 		0.010 GeneticVariation BEFREE Whole-exome sequencing in cCSNB patients lacking mutations in the known genes led to the identification of a homozygous missense mutation (c.1807C>T [p.His603Tyr]) in one consanguineous autosomal-recessive cCSNB family and a homozygous frameshift mutation in GPR179 (c.278delC [p.Pro93Glnfs(∗)57]) in a simplex male cCSNB patient. 22325361 2012