RP1, RP1 axonemal microtubule associated, 6101

N. diseases: 57; N. variants: 56
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9298506
rs9298506
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0007766
Disease:
Intracranial Aneurysm
0.830 GeneticVariation BEFREE The allelic G of rs1072737 is a risk factor for IA, while the allelic G of rs9298506 serves as a protective factor for IA in Chinese Han people. 31040677 2019
dbSNP: rs9298506
rs9298506
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0007766
Disease:
Intracranial Aneurysm
0.830 GeneticVariation BEFREE One SNP near <i>RP1</i> (rs1072737) showed a protective effect on IA in the dominant model (OR, 0.66; 95% CI, 0.46-0.95), while another SNP in <i>RP1</i> (rs9298506) showed a risk effect on IA in a recessive model (OR, 3.82; 95% CI, 1.84-7.91). 31250579 2019
dbSNP: rs9298506
rs9298506
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0007766
Disease:
Intracranial Aneurysm
0.830 GeneticVariation BEFREE Identification of genetic variants located near SOX17 is likely to be clinically significant for IA formation. rs10958409 and rs9298506 may increase risk of IA in East-Asian populations. 29191544 2018
dbSNP: rs9298506
rs9298506
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0007766
Disease:
Intracranial Aneurysm
A 0.830 GeneticVariation GWASCAT Genome-wide association study of intracranial aneurysm identifies three new risk loci. 20364137 2010
dbSNP: rs9298506
rs9298506
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0007766
Disease:
Intracranial Aneurysm
A 0.830 GeneticVariation GWASDB Genome-wide association study of intracranial aneurysm identifies three new risk loci. 20364137 2010
dbSNP: rs9298506
rs9298506
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0007766
Disease:
Intracranial Aneurysm
A 0.830 GeneticVariation GWASDB Susceptibility loci for intracranial aneurysm in European and Japanese populations. 18997786 2008
dbSNP: rs9298506
rs9298506
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0007766
Disease:
Intracranial Aneurysm
A 0.830 GeneticVariation GWASCAT Susceptibility loci for intracranial aneurysm in European and Japanese populations. 18997786 2008
dbSNP: rs10102164
rs10102164
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
A 0.800 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019
dbSNP: rs10102164
rs10102164
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs10102164
rs10102164
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C1445957
Disease:
Serum total cholesterol measurement
G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs10102164
rs10102164
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
A 0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
dbSNP: rs10102164
rs10102164
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C1445957
Disease:
Serum total cholesterol measurement
A 0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
dbSNP: rs10102164
rs10102164
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C1445957
Disease:
Serum total cholesterol measurement
A 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs10102164
rs10102164
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
A 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs10102164
rs10102164
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C1445957
Disease:
Serum total cholesterol measurement
A 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs10102164
rs10102164
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
A 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs104894082
rs104894082
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0220701
Disease:
RETINITIS PIGMENTOSA 1
0.710 GeneticVariation BEFREE Of the 241 patients, all were screened for the most common RP1 mutation (Arg677Ter), and 10 patients were found to have this mutation. 11527933 2001
dbSNP: rs104894082
rs104894082
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0220701
Disease:
RETINITIS PIGMENTOSA 1
T 0.710 CausalMutation CLINVAR
dbSNP: rs10102164
rs10102164
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C2825857
Disease:
Factor VIII measurement
A 0.700 GeneticVariation GWASCAT Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. 30586737 2019
dbSNP: rs10104003
rs10104003
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
T 0.700 GeneticVariation GWASCAT Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. 30670697 2019
dbSNP: rs1563329888
rs1563329888
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0854723
Disease:
Retinal Dystrophies
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs28600710
rs28600710
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs28600710
rs28600710
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs35262860
rs35262860
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0023980
Disease:
Longevity
GCT 0.700 GeneticVariation GWASCAT A meta-analysis of genome-wide association studies identifies multiple longevity genes. 31413261 2019
dbSNP: rs56204645
rs56204645
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
C 0.700 GeneticVariation GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019