Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893967
rs104893967
GUCA1A
0.030 GeneticVariation BEFREE Here, detailed analysis of biochemical properties of GCAP1(P50L), which causes a milder form of autosomal dominant cone dystrophy than constitutive active Y99C mutation, showed that the P50L mutation resulted in a decrease of Ca(2+)-binding, without changes in the GC activity profile of the mutant GCAP1. 11108966

2000
dbSNP: rs104893967
rs104893967
GUCA1A
0.030 GeneticVariation BEFREE We report a mutation (Y99C) in guanylate cyclase activator 1A (GUCA1A), the gene for guanylate cyclase activating protein (GCAP1), in a family with autosomal dominant cone dystrophy. 9425234

1998
dbSNP: rs104893967
rs104893967
GUCA1A
0.030 GeneticVariation BEFREE GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. 9702199

1998
dbSNP: rs104893968
rs104893968
GUCA1A
0.020 GeneticVariation BEFREE Missense mutations in GCAP1 (Y99C, I143NT, E155G, and P50L) have been associated with autosomal dominant cone dystrophy. 15336959

2004
dbSNP: rs104893968
rs104893968
GUCA1A
0.020 GeneticVariation BEFREE Here, detailed analysis of biochemical properties of GCAP1(P50L), which causes a milder form of autosomal dominant cone dystrophy than constitutive active Y99C mutation, showed that the P50L mutation resulted in a decrease of Ca(2+)-binding, without changes in the GC activity profile of the mutant GCAP1. 11108966

2000
dbSNP: rs121434631
rs121434631
GUCA1A
0.010 GeneticVariation BEFREE A novel L151F missense mutation in the EF4 high affinity Ca2+ binding site of GCAP1 is linked to adCD in a large pedigree. 15735604

2005
dbSNP: rs930876036
rs930876036
SDF4
0.010 GeneticVariation BEFREE Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. 11484154

2001
dbSNP: rs746726029
rs746726029
ALPG
0.010 GeneticVariation BEFREE Here, detailed analysis of biochemical properties of GCAP1(P50L), which causes a milder form of autosomal dominant cone dystrophy than constitutive active Y99C mutation, showed that the P50L mutation resulted in a decrease of Ca(2+)-binding, without changes in the GC activity profile of the mutant GCAP1. 11108966

2000
dbSNP: rs774437307
rs774437307
MPST ; TST
0.010 GeneticVariation BEFREE We report a mutation (Y99C) in guanylate cyclase activator 1A (GUCA1A), the gene for guanylate cyclase activating protein (GCAP1), in a family with autosomal dominant cone dystrophy. 9425234

1998