SAG, S-antigen visual arrestin, 6295

N. diseases: 97; N. variants: 9
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1046974
rs1046974
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C1287365
Disease:
Bilirubin level result 		0.700 GeneticVariation GWASDB Genome-wide association meta-analysis for total serum bilirubin levels. 19414484 2009
dbSNP: rs1046974
rs1046974
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C0344395
Disease:
Bilirubin measurement 		0.700 GeneticVariation GWASDB Genome-wide association meta-analysis for total serum bilirubin levels. 19414484 2009
dbSNP: rs11891546
rs11891546
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C1287365
Disease:
Bilirubin level result 		0.700 GeneticVariation GWASDB Genome-wide association meta-analysis for total serum bilirubin levels. 19414484 2009
dbSNP: rs11891546
rs11891546
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C0344395
Disease:
Bilirubin measurement 		0.700 GeneticVariation GWASDB Genome-wide association meta-analysis for total serum bilirubin levels. 19414484 2009
dbSNP: rs1324934886
rs1324934886
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C4551824
Disease:
Oguchi Disease 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs201153410
rs201153410
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C4551824
Disease:
Oguchi Disease 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs201153410
rs201153410
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C1306122
Disease:
Oguchi disease 		0.010 GeneticVariation BEFREE Compound heterozygosity of a nonsense R193X mutation and a heterozygous deletion of 3,224 bp encompassing exon 2 in the SAG gene is the cause of Oguchi's disease in this Chinese family. qPCR analysis should be performed if there is a negative result of the mutation screening of the SAG gene in patients with Oguchi's disease. 22419846 2012
dbSNP: rs397514681
rs397514681
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C4551824
Disease:
Oguchi Disease 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397514682
rs397514682
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C4551824
Disease:
Oguchi Disease 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs397514682
rs397514682
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C1306122
Disease:
Oguchi disease 		0.010 GeneticVariation BEFREE A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease. 22665972 2012
dbSNP: rs587776778
rs587776778
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C4551824
Disease:
Oguchi Disease 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587776778
rs587776778
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C3151061
Disease:
RETINITIS PIGMENTOSA 47 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587777209
rs587777209
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C4551824
Disease:
Oguchi Disease 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs753107507
rs753107507
Entrez Id: 6295
Gene Symbol: SAG
SAG
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE The binding of wild-type (WT) human arrestin-1 and several mutants with substitutions in position 147 (including C147F, which causes dominant retinitis pigmentosa in humans) to phosphorylated and unphosphorylated light-activated rhodopsin was determined. 29305604 2018