Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10859871
rs10859871
CUI: C0014175
Disease: Endometriosis
Endometriosis
C 0.850 GeneticVariation GWASCAT In addition, we establish an association of rs13394619 in GREB1 at 2p25.1 with endometriosis and identify a newly associated locus at 12q22 near VEZT (rs10859871). 23104006

2012

dbSNP: rs10859871
rs10859871
CUI: C0014175
Disease: Endometriosis
Endometriosis
C 0.850 GeneticVariation GWASDB In addition, we establish an association of rs13394619 in GREB1 at 2p25.1 with endometriosis and identify a newly associated locus at 12q22 near VEZT (rs10859871). 23104006

2012

dbSNP: rs7521902
rs7521902
CUI: C0014175
Disease: Endometriosis
Endometriosis
A 0.850 GeneticVariation GWASCAT Genome-wide association study link novel loci to endometriosis. 23472165

2013

dbSNP: rs7521902
rs7521902
CUI: C0014175
Disease: Endometriosis
Endometriosis
A 0.850 GeneticVariation GWASCAT Genome-wide association meta-analysis identifies new endometriosis risk loci. 23104006

2012

dbSNP: rs7521902
rs7521902
CUI: C0014175
Disease: Endometriosis
Endometriosis
A 0.850 GeneticVariation GWASDB Genome-wide association meta-analysis identifies new endometriosis risk loci. 23104006

2012

dbSNP: rs13394619
rs13394619
CUI: C0014175
Disease: Endometriosis
Endometriosis
G 0.840 GeneticVariation GWASCAT In addition, we establish an association of rs13394619 in GREB1 at 2p25.1 with endometriosis and identify a newly associated locus at 12q22 near VEZT (rs10859871). 23104006

2012

dbSNP: rs13394619
rs13394619
CUI: C0014175
Disease: Endometriosis
Endometriosis
G 0.840 GeneticVariation GWASDB In addition, we establish an association of rs13394619 in GREB1 at 2p25.1 with endometriosis and identify a newly associated locus at 12q22 near VEZT (rs10859871). 23104006

2012

dbSNP: rs10965235
rs10965235
CUI: C0014175
Disease: Endometriosis
Endometriosis
C 0.820 GeneticVariation GWASCAT Through a genome-wide association study and a replication study using a total of 1,907 Japanese individuals with endometriosis (cases) and 5,292 controls, we identified a significant association of endometriosis with rs10965235 (P = 5.57 x 10(-12), odds ratio = 1.44), which is located in CDKN2BAS on chromosome 9p21, encoding the cyclin-dependent kinase inhibitor 2B antisense RNA. 20601957

2010

dbSNP: rs10965235
rs10965235
CUI: C0014175
Disease: Endometriosis
Endometriosis
C 0.820 GeneticVariation GWASDB Through a genome-wide association study and a replication study using a total of 1,907 Japanese individuals with endometriosis (cases) and 5,292 controls, we identified a significant association of endometriosis with rs10965235 (P = 5.57 x 10(-12), odds ratio = 1.44), which is located in CDKN2BAS on chromosome 9p21, encoding the cyclin-dependent kinase inhibitor 2B antisense RNA. 20601957

2010

dbSNP: rs12700667
rs12700667
CUI: C0014175
Disease: Endometriosis
Endometriosis
A 0.820 GeneticVariation GWASCAT Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. 28537267

2017

dbSNP: rs12700667
rs12700667
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.820 GeneticVariation GWASCAT Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis. 28333195

2017

dbSNP: rs12700667
rs12700667
CUI: C0014175
Disease: Endometriosis
Endometriosis
A 0.820 GeneticVariation GWASCAT Genome-wide association meta-analysis identifies new endometriosis risk loci. 23104006

2012

dbSNP: rs12700667
rs12700667
CUI: C0014175
Disease: Endometriosis
Endometriosis
A 0.820 GeneticVariation GWASDB Genome-wide association meta-analysis identifies new endometriosis risk loci. 23104006

2012

dbSNP: rs12700667
rs12700667
CUI: C0014175
Disease: Endometriosis
Endometriosis
A 0.820 GeneticVariation GWASDB We replicated rs12700667 in an independent cohort from the United States of 2,392 self-reported, surgically confirmed endometriosis cases and 2,271 controls (P = 1.2 × 10⁻³, OR = 1.17, 95% CI 1.06-1.28), resulting in a genome-wide significant P value of 1.4 × 10⁻⁹ (OR = 1.20, 95% CI 1.13-1.27) for 'all' endometriosis in our combined datasets of 5,586 cases and 9,331 controls. rs12700667 is located in an intergenic region upstream of the plausible candidate genes NFE2L3 and HOXA10. 21151130

2011

dbSNP: rs12700667
rs12700667
CUI: C0014175
Disease: Endometriosis
Endometriosis
A 0.820 GeneticVariation GWASCAT We replicated rs12700667 in an independent cohort from the United States of 2,392 self-reported, surgically confirmed endometriosis cases and 2,271 controls (P = 1.2 × 10⁻³, OR = 1.17, 95% CI 1.06-1.28), resulting in a genome-wide significant P value of 1.4 × 10⁻⁹ (OR = 1.20, 95% CI 1.13-1.27) for 'all' endometriosis in our combined datasets of 5,586 cases and 9,331 controls. rs12700667 is located in an intergenic region upstream of the plausible candidate genes NFE2L3 and HOXA10. 21151130

2011

dbSNP: rs2235529
rs2235529
CUI: C0014175
Disease: Endometriosis
Endometriosis
T 0.820 GeneticVariation GWASCAT Genome-wide association study link novel loci to endometriosis. 23472165

2013

dbSNP: rs2235529
rs2235529
CUI: C0014175
Disease: Endometriosis
Endometriosis
A 0.820 GeneticVariation GWASDB Genome-wide association study link novel loci to endometriosis. 23472165

2013

dbSNP: rs2235529
rs2235529
CUI: C0014175
Disease: Endometriosis
Endometriosis
A 0.820 GeneticVariation GWASCAT Genome-wide association study link novel loci to endometriosis. 23472165

2013

dbSNP: rs4141819
rs4141819
CUI: C0014175
Disease: Endometriosis
Endometriosis
C 0.820 GeneticVariation GWASDB Genome-wide association meta-analysis identifies new endometriosis risk loci. 23104006

2012

dbSNP: rs4141819
rs4141819
CUI: C0014175
Disease: Endometriosis
Endometriosis
C 0.820 GeneticVariation GWASCAT Genome-wide association meta-analysis identifies new endometriosis risk loci. 23104006

2012

dbSNP: rs1537377
rs1537377
CUI: C0014175
Disease: Endometriosis
Endometriosis
C 0.810 GeneticVariation GWASCAT Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. 28537267

2017

dbSNP: rs1537377
rs1537377
CUI: C0014175
Disease: Endometriosis
Endometriosis
C 0.810 GeneticVariation GWASDB Genome-wide association meta-analysis identifies new endometriosis risk loci. 23104006

2012

dbSNP: rs1537377
rs1537377
CUI: C0014175
Disease: Endometriosis
Endometriosis
C 0.810 GeneticVariation GWASCAT Genome-wide association meta-analysis identifies new endometriosis risk loci. 23104006

2012

dbSNP: rs7739264
rs7739264
CUI: C0014175
Disease: Endometriosis
Endometriosis
T 0.810 GeneticVariation GWASCAT Genome-wide association meta-analysis identifies new endometriosis risk loci. 23104006

2012

dbSNP: rs7739264
rs7739264
CUI: C0014175
Disease: Endometriosis
Endometriosis
T 0.810 GeneticVariation GWASDB Genome-wide association meta-analysis identifies new endometriosis risk loci. 23104006

2012