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: rs10758658
rs10758658
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs10758661
rs10758661
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs10815094
rs10815094
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs10815094
rs10815094
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs10815095
rs10815095
Entrez Id: 10171;406894
Gene Symbol: RCL1;MIR101-2
RCL1;MIR101-2
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs10815095
rs10815095
Entrez Id: 10171;406894
Gene Symbol: RCL1;MIR101-2
RCL1;MIR101-2
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs10815095
rs10815095
Entrez Id: 10171;406894
Gene Symbol: RCL1;MIR101-2
RCL1;MIR101-2
CUI: C0427460
Disease:
Red cell distribution width determination 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10815095
rs10815095
Entrez Id: 10171;406894
Gene Symbol: RCL1;MIR101-2
RCL1;MIR101-2
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10815098
rs10815098
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs10815098
rs10815098
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs10974808
rs10974808
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs10974808
rs10974808
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs10974808
rs10974808
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0032181
Disease:
Platelet Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10974815
rs10974815
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs10974815
rs10974815
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
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: 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: rs12375841
rs12375841
Entrez Id: 10171;406894
Gene Symbol: RCL1;MIR101-2
RCL1;MIR101-2
CUI: C0019163
Disease:
Hepatitis B 		0.010 GeneticVariation BEFREE In addition, rs12375841 and its unique haplotype (ht2) in miR-101-2 show significant association with clearance of hepatitis B virus infection. 22658643 2012
dbSNP: rs12554461
rs12554461
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs13284787
rs13284787
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs13284787
rs13284787
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASDB Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs13300663
rs13300663
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0032181
Disease:
Platelet Count measurement 		C 0.800 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419 2011