Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.730 GeneticVariation GWASDB Identification of a melanoma susceptibility locus and somatic mutation in TET2. 24980573 2014
melanoma
CUI: C0025202
Disease: 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
CUI: C0025202
Disease: 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
CUI: C0025202
Disease: 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
CUI: C0007137
Disease: Squamous cell carcinoma
0.710 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.710 GeneticVariation GWASCAT Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma. 26829030 2016
Albinism
CUI: C0001916
Disease: 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
CUI: C0007137
Disease: 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
CUI: C0001916
Disease: Albinism
0.710 GeneticVariation CLINVAR
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
Basal cell carcinoma
CUI: C0007117
Disease: Basal cell carcinoma
0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
Suntan
CUI: C0406208
Disease: 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
CUI: C0037290
Disease: 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
CUI: C0042900
Disease: 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
CUI: C0553723
Disease: 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
CUI: C0206710
Disease: 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
CUI: C0751676
Disease: 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
CUI: C0007117
Disease: Basal cell carcinoma
0.700 GeneticVariation GWASCAT Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma. 27539887 2016
Suntan
CUI: C0406208
Disease: 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
CUI: C1848701
Disease: 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