KITLG, KIT ligand, 4254

N. diseases: 249; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918653
rs121918653
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1840392
Disease:
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.800 GeneticVariation UNIPROT Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. 19375057 2009
dbSNP: rs121918653
rs121918653
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1840392
Disease:
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		C 0.800 CausalMutation CLINVAR
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
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
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		A 0.720 GeneticVariation GWASDB Meta-analysis identifies four new loci associated with testicular germ cell tumor. 23666239 2013
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		G 0.720 GeneticVariation GWASDB Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
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
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		G 0.720 GeneticVariation GWASDB A genome-wide association study of testicular germ cell tumor. 19483681 2009
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0855197
Disease:
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
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
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
dbSNP: rs730882157
rs730882157
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1840392
Disease:
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		0.710 GeneticVariation BEFREE A reported FPH substitution was observed in two FPHH families, and two, to our knowledge, previously unreported substitutions, p.Val33Ala and p.Thr34Pro, cosegregated with FPHH in two separate families. 21368769 2011
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
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
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0855197
Disease:
Malignant Testicular Germ Cell Tumor 		0.710 GeneticVariation GWASDB Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. 20543847 2010
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
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
dbSNP: rs730882157
rs730882157
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1840392
Disease:
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 		G 0.710 CausalMutation CLINVAR
dbSNP: rs1907703
rs1907703
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0018498
Disease:
Hair Color 		0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs35618688
rs35618688
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0018498
Disease:
Hair Color 		A 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs3782181
rs3782181
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		A 0.700 GeneticVariation GWASCAT Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. 28604732 2017
dbSNP: rs3782181
rs3782181
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C1336708
Disease:
Testicular Germ Cell Tumor 		C 0.700 GeneticVariation GWASCAT Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. 28604728 2017
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0039590
Disease:
Testicular Neoplasms 		G 0.700 GeneticVariation GWASCAT Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 23666240 2013
dbSNP: rs995030
rs995030
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0039590
Disease:
Testicular Neoplasms 		A 0.700 GeneticVariation GWASCAT Meta-analysis identifies four new loci associated with testicular germ cell tumor. 23666239 2013
dbSNP: rs11104952
rs11104952
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0153594
Disease:
Malignant neoplasm of testis 		0.700 GeneticVariation GWASDB A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. 21551455 2011
dbSNP: rs1352947
rs1352947
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0153594
Disease:
Malignant neoplasm of testis 		0.700 GeneticVariation GWASDB A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. 21551455 2011
dbSNP: rs1472899
rs1472899
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0153594
Disease:
Malignant neoplasm of testis 		0.700 GeneticVariation GWASDB A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. 21551455 2011
dbSNP: rs3782179
rs3782179
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0153594
Disease:
Malignant neoplasm of testis 		0.700 GeneticVariation GWASDB A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. 21551455 2011
dbSNP: rs3782181
rs3782181
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
CUI: C0153594
Disease:
Malignant neoplasm of testis 		0.700 GeneticVariation GWASDB A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. 21551455 2011