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: rs1053872
rs1053872
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Additionally, combined analysis of the two high-risk SNPs revealed that subjects carrying the variant genotypes of rs462480 and rs1053872 had increased risk of breast cancer in a dose-response manner (P(trend) = 0.002). 24475105 2014
dbSNP: rs1053872
rs1053872
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Additionally, combined analysis of the two high-risk SNPs revealed that subjects carrying the variant genotypes of rs462480 and rs1053872 had increased risk of breast cancer in a dose-response manner (P(trend) = 0.002). 24475105 2014
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: 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: rs462480
rs462480
Entrez Id: 10171;406894
Gene Symbol: RCL1;MIR101-2
RCL1;MIR101-2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Additionally, combined analysis of the two high-risk SNPs revealed that subjects carrying the variant genotypes of rs462480 and rs1053872 had increased risk of breast cancer in a dose-response manner (P(trend) = 0.002). 24475105 2014
dbSNP: rs462480
rs462480
Entrez Id: 10171;406894
Gene Symbol: RCL1;MIR101-2
RCL1;MIR101-2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Additionally, combined analysis of the two high-risk SNPs revealed that subjects carrying the variant genotypes of rs462480 and rs1053872 had increased risk of breast cancer in a dose-response manner (P(trend) = 0.002). 24475105 2014
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: 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: rs10758658
rs10758658
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result)
A 0.800 GeneticVariation GWASCAT Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. 19862010 2009
dbSNP: rs10758658
rs10758658
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin
A 0.800 GeneticVariation GWASCAT 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 GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs2236496
rs2236496
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result)
T 0.800 GeneticVariation GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
dbSNP: rs2236496
rs2236496
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result)
C 0.800 GeneticVariation GWASCAT Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs2236496
rs2236496
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result)
C 0.800 GeneticVariation GWASCAT Genome-wide association study of hematological and biochemical traits in a Japanese population. 20139978 2010
dbSNP: rs423955
rs423955
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0032181
Disease:
Platelet Count measurement
A 0.800 GeneticVariation GWASCAT A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. 24026423 2014
dbSNP: rs457287
rs457287
Entrez Id: 10171
Gene Symbol: RCL1
RCL1
CUI: C0032181
Disease:
Platelet Count measurement
A 0.800 GeneticVariation GWASCAT GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. 23263863 2013
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: 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
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: 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