rs995030, KITLG

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Testicular Germ Cell Tumor
CUI: C1336708
Disease: Testicular Germ Cell Tumor
0.720 GeneticVariation BEFREE We found significant differences in the KITLG GG_rs995030 genotype in TM (P = 0.01) and TGCT patients (P = 0.0005) compared with the control. 30027931 2019
Testicular Germ Cell Tumor
CUI: C1336708
Disease: Testicular Germ Cell Tumor
0.720 GeneticVariation GWASDB Meta-analysis identifies four new loci associated with testicular germ cell tumor. 23666239 2013
Testicular Germ Cell Tumor
CUI: C1336708
Disease: Testicular Germ Cell Tumor
0.720 GeneticVariation GWASDB Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
Testicular Germ Cell Tumor
CUI: C1336708
Disease: Testicular Germ Cell Tumor
0.720 GeneticVariation BEFREE We found that TGCT risk was increased more than twofold per copy of the major G allele and A allele in KITLG rs995030 and rs4471514 (odds ratio (OR)=2.38, 95% confidence interval (95% CI)=1.81-3.12; OR=2.43, 95% CI=1.86-3.17 respectively), and homozygotes for the risk allele had a sevenfold increased risk of TGCT. 22194441 2012
Testicular Germ Cell Tumor
CUI: C1336708
Disease: Testicular Germ Cell Tumor
0.720 GeneticVariation GWASDB A genome-wide association study of testicular germ cell tumor. 19483681 2009
Malignant Testicular Germ Cell Tumor
0.710 GeneticVariation BEFREE The SNP rs995030 was strongly associated with risk of testicular cancer (per allele OR: 1.83; 95%CI: 1.26-2.64), but it did not modify the association between number of children and the risk of testicular cancer. 28036409 2016
Malignant neoplasm of testis
CUI: C0153594
Disease: Malignant neoplasm of testis
0.710 GeneticVariation BEFREE The SNP rs995030 was strongly associated with risk of testicular cancer (per allele OR: 1.83; 95%CI: 1.26-2.64), but it did not modify the association between number of children and the risk of testicular cancer. 28036409 2016
Malignant neoplasm of testis
CUI: C0153594
Disease: Malignant neoplasm of testis
0.710 GeneticVariation GWASDB A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. 21551455 2011
Malignant Testicular Germ Cell Tumor
0.710 GeneticVariation GWASDB Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. 20543847 2010
Malignant neoplasm of testis
CUI: C0153594
Disease: Malignant neoplasm of testis
0.710 GeneticVariation GWASDB Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. 19483682 2009
Testicular Neoplasms
CUI: C0039590
Disease: Testicular Neoplasms
0.700 GeneticVariation GWASCAT Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
Testicular Neoplasms
CUI: C0039590
Disease: Testicular Neoplasms
0.700 GeneticVariation GWASCAT Meta-analysis identifies four new loci associated with testicular germ cell tumor. 23666239 2013
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
0.700 GeneticVariation GWASDB A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145 2010
Testicular Neoplasms
CUI: C0039590
Disease: Testicular Neoplasms
0.700 GeneticVariation GWASCAT A genome-wide association study of testicular germ cell tumor. 19483681 2009
Testicular Microlithiasis
CUI: C1864873
Disease: Testicular Microlithiasis
0.010 GeneticVariation BEFREE We found significant differences in the KITLG GG_rs995030 genotype in TM (P = 0.01) and TGCT patients (P = 0.0005) compared with the control. 30027931 2019
Androgen-Insensitivity Syndrome
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
0.010 GeneticVariation BEFREE No GCNIS or TGCT was diagnosed, but pre-GCNIS was identified in 14 and 10% of complete and partial AIS patients, respectively, and was associated with a higher genetic susceptibility score (GSS), with special attention for KITLG (rs995030) and ATFZIP (rs2900333). 29121256 2017
Oligospermia
CUI: C0028960
Disease: Oligospermia
0.010 GeneticVariation BEFREE To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. 24083421 2013
Azoospermia
CUI: C0004509
Disease: Azoospermia
0.010 GeneticVariation BEFREE To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. 24083421 2013