rs1800407, OCA2

N. diseases: 6
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
0.010 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
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
0.010 GeneticVariation BEFREE The OCA2 Arg419Gln and ASIP g.8818 A>G were associated with BCC risk (OR, 1.50; 95% CI, 1.06-2.13 and OR, 0.73; 95% CI, 0.53-1.00, respectively). 19384953 2009
Experimental Organism Basal Cell Carcinoma
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
0.010 GeneticVariation BEFREE The OCA2 Arg419Gln and ASIP g.8818 A>G were associated with BCC risk (OR, 1.50; 95% CI, 1.06-2.13 and OR, 0.73; 95% CI, 0.53-1.00, respectively). 19384953 2009
melanoma
CUI: C0025202
Disease: melanoma
0.010 GeneticVariation BEFREE We found that the variant allele of OCA2 R419Q (rs1800407) was associated with increased risk of MM (OR 1.55, 95% CI 1.04-2.31, P = 0.03). 19320733 2009
Autosomal recessive ocular albinism
CUI: C0268503
Disease: Autosomal recessive ocular albinism
0.010 GeneticVariation BEFREE Almost all patients with OCA1-related AROA were compound heterozygous for severe OCA1 mutant alleles and the common R402Q variant. 18326704 2008