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: 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: 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: rs34248373
rs34248373
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0202236
Disease:
Triglycerides measurement
0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs427244
rs427244
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0014175
Disease:
Endometriosis
A 0.700 GeneticVariation GWASCAT New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study. 28881265 2017
dbSNP: rs4765540
rs4765540
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0029410
Disease:
Osteoarthritis of hip
C 0.700 GeneticVariation GWASCAT Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis. 30374069 2018
dbSNP: rs825476
rs825476
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
C 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. 30054458 2018
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: C0202236
Disease:
Triglycerides measurement
C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
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: C0205682
Disease:
Waist-Hip Ratio
T 0.700 GeneticVariation GWASCAT New genetic loci link adipose and insulin biology to body fat distribution. 25673412 2015
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: C0392885
Disease:
High density lipoprotein measurement
C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs863750
rs863750
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0037369
Disease:
Smoking
T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
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
dbSNP: rs863750
rs863750
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C1519383
Disease:
Smoking Behaviors
T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
dbSNP: rs825476
rs825476
Entrez Id: 144347;100533183
Gene Symbol: RFLNA;ZNF664-RFLNA
RFLNA;ZNF664-RFLNA
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE Given that the CCDC92 (coiled-coil domain containing 92) was important in insulin resistance, we sought to investigate whether the CCDC92 rs825476 SNP is associated with the risk of CHD in Chinese Han population. 29439709 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
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: 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
G 0.800 GeneticVariation GWASDB Biological, clinical and population relevance of 95 loci for blood lipids. 20686565 2010