Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
melanoma
|
0.730 | GeneticVariation | GWASDB | Identification of a melanoma susceptibility locus and somatic mutation in TET2. | 24980573 | 2014 | |||||
melanoma
|
0.730 | GeneticVariation | BEFREE | The association with melanoma of the TYR variant p.Arg402Gln was also statistically significant (OR: 1.50; 95% CI: 1.11-2.04; p-value=0.0089). | 22464347 | 2012 | |||||
melanoma
|
0.730 | GeneticVariation | BEFREE | The homozygous p.R402Q variant was significantly associated with SK risk (P value=0.008; OR=1.57), and was mostly associated with multiple CM risk (P value=0.021; OR=2.50) and familial CM risk (P value=0.022; OR=2.16). | 21906913 | 2011 | |||||
melanoma
|
0.730 | GeneticVariation | BEFREE | The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)). | 18488027 | 2008 | |||||
Squamous cell carcinoma
|
0.710 | GeneticVariation | GWASCAT | Combined analysis of keratinocyte cancers identifies novel genome-wide loci. | 31174203 | 2019 | |||||
Squamous cell carcinoma
|
0.710 | GeneticVariation | GWASCAT | Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma. | 26829030 | 2016 | |||||
Albinism
|
0.710 | GeneticVariation | BEFREE | Finally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation. | 23504663 | 2013 | |||||
Squamous cell carcinoma
|
0.710 | GeneticVariation | BEFREE | The TYR haplotype carrying only the Arg402Gln variant allele was significantly associated with SCC risk (OR, 1.35; 95% CI, 1.04-1.74). | 19384953 | 2009 | |||||
Albinism
|
0.710 | GeneticVariation | CLINVAR | ||||||||
Basal Cell Cancer
|
0.700 | GeneticVariation | GWASCAT | Combined analysis of keratinocyte cancers identifies novel genome-wide loci. | 31174203 | 2019 | |||||
Basal Cell Neoplasm
|
0.700 | GeneticVariation | GWASCAT | Combined analysis of keratinocyte cancers identifies novel genome-wide loci. | 31174203 | 2019 | |||||
Basal cell carcinoma
|
0.700 | GeneticVariation | GWASCAT | Combined analysis of keratinocyte cancers identifies novel genome-wide loci. | 31174203 | 2019 | |||||
Suntan
|
0.700 | GeneticVariation | GWASCAT | Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. | 29739929 | 2018 | |||||
Skin Pigmentation
|
0.700 | GeneticVariation | GWASCAT | Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. | 30166351 | 2018 | |||||
Vitiligo
|
0.700 | GeneticVariation | GWASCAT | Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. | 27723757 | 2016 | |||||
Squamous cell carcinoma of skin
|
0.700 | GeneticVariation | GWASCAT | Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma. | 27424798 | 2016 | |||||
Basal Cell Neoplasm
|
0.700 | GeneticVariation | GWASCAT | Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. | 27539887 | 2016 | |||||
Basal Cell Cancer
|
0.700 | GeneticVariation | GWASCAT | Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. | 27539887 | 2016 | |||||
Basal cell carcinoma
|
0.700 | GeneticVariation | GWASCAT | Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. | 27539887 | 2016 | |||||
Suntan
|
0.700 | GeneticVariation | GWASCAT | Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. | 23548203 | 2013 | |||||
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Elevated hepatic transaminase
|
0.700 | GeneticVariation | CLINVAR | ||||||||
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE
|
0.700 | CausalMutation | CLINVAR | ||||||||
Abnormality of metabolism/homeostasis
|
0.700 | GeneticVariation | CLINVAR | ||||||||
SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYES
|
0.700 | GeneticVariation | CLINVAR |