RFLNA, refilin A, 144347

N. diseases: 19; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4765127
rs4765127
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 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: rs4765127
rs4765127
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0202236
Disease:
Triglycerides measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs4765127
rs4765127
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0392885
Disease:
High density lipoprotein measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs1187415
rs1187415
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C2700366
Disease:
Adiponectin Measurement 		C 0.800 GeneticVariation GWASDB A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. 24105470 2014
dbSNP: rs1187415
rs1187415
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C2700366
Disease:
Adiponectin Measurement 		C 0.800 GeneticVariation GWASCAT A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. 24105470 2014
dbSNP: rs4765127
rs4765127
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0202236
Disease:
Triglycerides measurement 		T 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs4765127
rs4765127
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0202236
Disease:
Triglycerides measurement 		T 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs4765127
rs4765127
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs4765127
rs4765127
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068 2013
dbSNP: rs4765127
rs4765127
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0202236
Disease:
Triglycerides measurement 		G 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs4765127
rs4765127
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs4765127
rs4765127
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0202236
Disease:
Triglycerides measurement 		G 0.800 GeneticVariation GWASCAT Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs4765127
rs4765127
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0392885
Disease:
High density lipoprotein measurement 		G 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010
dbSNP: rs7969148
rs7969148
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0009081
Disease:
Congenital clubfoot 		0.710 GeneticVariation BEFREE Strongest evidence for an association of clubfoot was found with an intergenic SNP on chromosome 12q24.31 between NCOR2 and ZNF664 (rs7969148, OR=0.58, p=1.25×10⁻⁵) that was significant on replication (combined OR=0.63, p=1.90×10⁻⁷). 24667120 2014
dbSNP: rs7969148
rs7969148
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0009081
Disease:
Congenital clubfoot 		0.710 GeneticVariation GWASDB Strongest evidence for an association of clubfoot was found with an intergenic SNP on chromosome 12q24.31 between NCOR2 and ZNF664 (rs7969148, OR=0.58, p=1.25×10⁻⁵) that was significant on replication (combined OR=0.63, p=1.90×10⁻⁷). 24667120 2014
dbSNP: rs11057413
rs11057413
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank. 31453325 2019
dbSNP: rs11057450
rs11057450
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11057553
rs11057553
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11615503
rs11615503
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs12310367
rs12310367
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0202236
Disease:
Triglycerides measurement 		A 0.700 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019
dbSNP: rs34102591
rs34102591
Entrez Id: 144347;144348;100533183
Gene Symbol: RFLNA;ZNF664;ZNF664-RFLNA
RFLNA;ZNF664;ZNF664-RFLNA
CUI: C0036341
Disease:
Schizophrenia 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
dbSNP: rs863750
rs863750
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs863750
rs863750
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
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: rs863750
rs863750
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs863750
rs863750
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0205682
Disease:
Waist-Hip Ratio 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019