rs1046974
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
Bilirubin level result
0.700
GeneticVariation
GWASDB
Genome-wide association meta-analysis for total serum bilirubin levels.
19414484
2009
rs11891546
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
Bilirubin level result
0.700
GeneticVariation
GWASDB
Genome-wide association meta-analysis for total serum bilirubin levels.
19414484
2009
rs1046974
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
Bilirubin measurement
0.700
GeneticVariation
GWASDB
Genome-wide association meta-analysis for total serum bilirubin levels.
19414484
2009
rs11891546
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
Bilirubin measurement
0.700
GeneticVariation
GWASDB
Genome-wide association meta-analysis for total serum bilirubin levels.
19414484
2009
rs201153410
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
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
rs397514682
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
Oguchi disease
0.010
GeneticVariation
BEFREE
A nonsense mutation in S-antigen (p.Glu306* ) causes Oguchi disease .
22665972
2012
rs1324934886
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
Oguchi Disease 1
T
0.700
GeneticVariation
CLINVAR
rs201153410
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
Oguchi Disease 1
T
0.700
CausalMutation
CLINVAR
rs397514681
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
Oguchi Disease 1
T
0.700
CausalMutation
CLINVAR
rs397514682
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
Oguchi Disease 1
T
0.700
CausalMutation
CLINVAR
rs587776778
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
Oguchi Disease 1
C
0.700
CausalMutation
CLINVAR
rs587777209
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
Oguchi Disease 1
T
0.700
CausalMutation
CLINVAR
rs753107507
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
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
rs587776778
×
Entrez Id:
6295
Gene Symbol:
SAG
SAG
RETINITIS PIGMENTOSA 47
C
0.700
CausalMutation
CLINVAR