RFX6, regulatory factor X6, 222546

N. diseases: 39; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607012
rs267607012
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C2748662
Disease:
Mitchell-Riley Syndrome
0.800 GeneticVariation UNIPROT RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells. 25497100 2014
dbSNP: rs267607013
rs267607013
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C2748662
Disease:
Mitchell-Riley Syndrome
0.800 GeneticVariation UNIPROT RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cells. 25497100 2014
dbSNP: rs267607012
rs267607012
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C2748662
Disease:
Mitchell-Riley Syndrome
0.800 GeneticVariation UNIPROT Rfx6 directs islet formation and insulin production in mice and humans. 20148032 2010
dbSNP: rs267607013
rs267607013
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C2748662
Disease:
Mitchell-Riley Syndrome
0.800 GeneticVariation UNIPROT Rfx6 directs islet formation and insulin production in mice and humans. 20148032 2010
dbSNP: rs267607012
rs267607012
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C2748662
Disease:
Mitchell-Riley Syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs267607013
rs267607013
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C2748662
Disease:
Mitchell-Riley Syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0600139
Disease:
Prostate carcinoma
T 0.760 GeneticVariation GWASCAT 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population. 31562322 2019
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0600139
Disease:
Prostate carcinoma
0.760 GeneticVariation BEFREE The cumulative effects test of risk alleles (rs rs1983891, rs339331, rs16901966, rs1447295 and rs10090154) showed an increasing risk to PCa in a frequency-dependent manner (ptrend=0.001), and men with more than 3 risk alleles had the most significant susceptibility to PCa (OR=1.99, p=0.001), compared with those who had one risk allele (OR=1.17, p=0.486). 26537068 2016
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.760 GeneticVariation BEFREE The cumulative effects test of risk alleles (rs rs1983891, rs339331, rs16901966, rs1447295 and rs10090154) showed an increasing risk to PCa in a frequency-dependent manner (ptrend=0.001), and men with more than 3 risk alleles had the most significant susceptibility to PCa (OR=1.99, p=0.001), compared with those who had one risk allele (OR=1.17, p=0.486). 26537068 2016
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.760 GeneticVariation BEFREE To validate this approach, we analyzed the 6q22.1 prostate cancer risk locus and identified rs339331 as the top-scoring SNP. 26398868 2015
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0600139
Disease:
Prostate carcinoma
0.760 GeneticVariation BEFREE To validate this approach, we analyzed the 6q22.1 prostate cancer risk locus and identified rs339331 as the top-scoring SNP. 26398868 2015
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0600139
Disease:
Prostate carcinoma
T 0.760 GeneticVariation GWASCAT Large-scale association analysis in Asians identifies new susceptibility loci for prostate cancer. 26443449 2015
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0600139
Disease:
Prostate carcinoma
T 0.760 GeneticVariation GWASCAT A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. 26034056 2015
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.760 GeneticVariation BEFREE Together, our results suggest that rs339331 affects prostate cancer risk by altering RFX6 expression through a functional interaction with the prostate cancer susceptibility gene HOXB13. 24390282 2014
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0600139
Disease:
Prostate carcinoma
0.760 GeneticVariation BEFREE Together, our results suggest that rs339331 affects prostate cancer risk by altering RFX6 expression through a functional interaction with the prostate cancer susceptibility gene HOXB13. 24390282 2014
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.760 GeneticVariation BEFREE Other SNPs were not significantly associated with clinical covariates in prostate cancer (P > 0.05).CONCLUSIONS. rs339331</span> in the RFX6 gene may be associated with prostate cancer as a susceptibility locus in northern Chinese men. 23803082 2013
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0600139
Disease:
Prostate carcinoma
0.760 GeneticVariation BEFREE Other SNPs were not significantly associated with clinical covariates in prostate cancer (P > 0.05).CONCLUSIONS. rs339331</span> in the RFX6 gene may be associated with prostate cancer as a susceptibility locus in northern Chinese men. 23803082 2013
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0600139
Disease:
Prostate carcinoma
0.760 GeneticVariation BEFREE We successfully replicated the association of rs13385191 (located in the C2orf43 gene, P = 8.60×10(-5)), rs12653946 (P = 1.33×10(-6)), rs1983891 (FOXP4, P = 6.22×10(-5)), and rs339331 (GPRC6A/RFX6, P = 1.42×10(-5)) with prostate cancer. 22662242 2012
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.760 GeneticVariation BEFREE We successfully replicated the association of rs13385191 (located in the C2orf43 gene, P = 8.60×10(-5)), rs12653946 (P = 1.33×10(-6)), rs1983891 (FOXP4, P = 6.22×10(-5)), and rs339331 (GPRC6A/RFX6, P = 1.42×10(-5)) with prostate cancer. 22662242 2012
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.760 GeneticVariation BEFREE We found that three of the five genetic variants were associated with prostate cancer risk (P = 4.33 × 10(-8) for rs12653946 at 5p15, 4.43 × 10(-5) for rs339331 at 6q22 and 8.42 × 10(-4) for rs9600079 at 13q22, respectively). 22114074 2012
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0600139
Disease:
Prostate carcinoma
0.760 GeneticVariation BEFREE We found that three of the five genetic variants were associated with prostate cancer risk (P = 4.33 × 10(-8) for rs12653946 at 5p15, 4.43 × 10(-5) for rs339331 at 6q22 and 8.42 × 10(-4) for rs9600079 at 13q22, respectively). 22114074 2012
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0600139
Disease:
Prostate carcinoma
T 0.760 GeneticVariation GWASCAT Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. 20676098 2010
dbSNP: rs339331
rs339331
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C0376358
Disease:
Malignant neoplasm of prostate
T 0.760 GeneticVariation GWASDB Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. 20676098 2010
dbSNP: rs1445567359
rs1445567359
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C2748662
Disease:
Mitchell-Riley Syndrome
0.710 GeneticVariation BEFREE We describe Mitchell-Riley syndrome in two sisters with two novel compound heterozygous variants in the RFX6 gene: c.1154G > A, p.(Arg385Gln), and c.1316_1319delTCTA, p.(Ile439Thrfs*13). 27523286 2016
dbSNP: rs1445567359
rs1445567359
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
CUI: C2748662
Disease:
Mitchell-Riley Syndrome
A 0.710 GeneticVariation CLINVAR