RCL1, RNA terminal phosphate cyclase like 1, 10171

N. diseases: 19; N. variants: 43
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10758656
rs10758656
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.800 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10758656
rs10758656
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10758656
rs10758656
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
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: rs10758656
rs10758656
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs460182
rs460182
Entrez Id: 10171;406894
Gene Symbol: RCL1;MIR101-2
RCL1;MIR101-2
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10758656
rs10758656
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs10758658
rs10758658
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs12351570
rs12351570
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0032181
Disease:
Platelet Count measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs3824430
rs3824430
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs10739069
rs10739069
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0427460
Disease:
Red cell distribution width determination 		A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs10739069
rs10739069
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		A 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs115482041
rs115482041
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0011581
Disease:
Depressive disorder 		0.010 GeneticVariation BEFREE Using a multistep approach involving linkage and haplotype analyses followed by exome sequencing in the Erasmus Rucphen Family (ERF) study, we identified a rare (minor allele frequency (MAF)=1%) missense c.1114C>T mutation (rs115482041) in the RCL1 gene segregating with depression across multiple generations. 28322274 2018
dbSNP: rs115482041
rs115482041
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0344315
Disease:
Depressed mood 		0.010 GeneticVariation BEFREE Using a multistep approach involving linkage and haplotype analyses followed by exome sequencing in the Erasmus Rucphen Family (ERF) study, we identified a rare (minor allele frequency (MAF)=1%) missense c.1114C>T mutation (rs115482041) in the RCL1 gene segregating with depression across multiple generations. 28322274 2018
dbSNP: rs115482041
rs115482041
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0086132
Disease:
Depressive Symptoms 		0.010 GeneticVariation BEFREE Despite being twice as rare (MAF<0.5%), c.1114C>T showed similar effect and significant association with depressive symptoms in samples from the independent population-based Rotterdam study (N=1604, β<sub>T-allele</sub>=3.60, P-value=3 × 10<sup>-2</sup>). 28322274 2018
dbSNP: rs115482041
rs115482041
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0011570
Disease:
Mental Depression 		0.010 GeneticVariation BEFREE Using a multistep approach involving linkage and haplotype analyses followed by exome sequencing in the Erasmus Rucphen Family (ERF) study, we identified a rare (minor allele frequency (MAF)=1%) missense c.1114C>T mutation (rs115482041) in the RCL1 gene segregating with depression across multiple generations. 28322274 2018
dbSNP: rs10758658
rs10758658
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.800 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
dbSNP: rs10758658
rs10758658
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		A 0.800 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
dbSNP: rs10758656
rs10758656
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		A 0.700 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
dbSNP: rs10758658
rs10758658
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
dbSNP: rs159432
rs159432
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs295258
rs295258
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs295259
rs295259
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs7852472
rs7852472
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs969223
rs969223
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs10758656
rs10758656
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016