rs76216585, POC1B

N. diseases: 9
Disease: CONE-ROD DYSTROPHY 20 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CONE-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
0.800 CausalMutation CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
CONE-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
0.800 CausalMutation CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
CONE-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
0.800 GeneticVariation UNIPROT Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
CONE-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
0.800 GeneticVariation UNIPROT Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
CONE-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
0.800 CausalMutation CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
CONE-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
0.800 GeneticVariation UNIPROT Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014