OCA2, OCA2 melanosomal transmembrane protein, 4948

N. diseases: 141; N. variants: 91
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800407
rs1800407
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0007137
Disease:
Squamous cell carcinoma 		T 0.710 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs1284013503
rs1284013503
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		0.010 GeneticVariation BEFREE We performed the targeted next-generation sequencing (NGS) on the proband and identified two novel compound heterozygous variants (c.1865 T > C (p.Leu622Pro) and exons 17-21 deletion) in OCA2 gene associated with OCA type 2 (OCA2, OMIM 203200). 31345173 2019
dbSNP: rs116978932
rs116978932
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
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: rs11855019
rs11855019
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0015396
Disease:
Eye Color 		0.700 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351 2018
dbSNP: rs121918166
rs121918166
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0018498
Disease:
Hair Color 		T 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs121918167
rs121918167
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
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: rs121918170
rs121918170
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0018498
Disease:
Hair Color 		C 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs1448489
rs1448489
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0018498
Disease:
Hair Color 		C 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs1800407
rs1800407
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0406208
Disease:
Suntan 		T 0.700 GeneticVariation GWASCAT Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. 29739929 2018
dbSNP: rs1800407
rs1800407
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0406208
Disease:
Suntan 		0.700 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351 2018
dbSNP: rs1800407
rs1800407
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0018498
Disease:
Hair Color 		T 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs1800407
rs1800407
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
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
dbSNP: rs4778174
rs4778174
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		0.700 GeneticVariation GWASCAT A case-control genome-wide association study of ADHD discovers a novel association with the tenascin R (TNR) gene. 30563984 2018
dbSNP: rs4778224
rs4778224
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
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: rs7169225
rs7169225
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0018498
Disease:
Hair Color 		G 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs72625132
rs72625132
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0018498
Disease:
Hair Color 		C 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs74653330
rs74653330
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0018498
Disease:
Hair Color 		T 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs924318
rs924318
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
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: rs4778137
rs4778137
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0853879
Disease:
Invasive carcinoma of breast 		0.010 GeneticVariation BEFREE The association between rs4778137 genotypes and pathological complete response (pCR, defined that the postoperative pathology indicating no residual invasive breast cancer in the breast or the axillary lymph node) were analyzed. 29409738 2018
dbSNP: rs4778137
rs4778137
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE A case-cohort with 150 breast cancer patients was performed to evaluate the effects of the OCA2 rs4778137 on breast cancer survival. 29409738 2018
dbSNP: rs4778137
rs4778137
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C3495917
Disease:
Advanced breast cancer 		0.010 GeneticVariation BEFREE The OCA2 rs4778137 may be a predictor for the clinical response and survival in local advanced breast cancer patients who received neoadjuvant chemotherapy. 29409738 2018
dbSNP: rs4778137
rs4778137
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE A case-cohort with 150 breast cancer patients was performed to evaluate the effects of the OCA2 rs4778137 on breast cancer survival. 29409738 2018
dbSNP: rs121918166
rs121918166
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2 		T 0.810 CausalMutation CLINVAR Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. 28451379 2017
dbSNP: rs121918167
rs121918167
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0268495
Disease:
Oculocutaneous albinism type 2 		A 0.800 CausalMutation CLINVAR Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. 28266639 2017
dbSNP: rs11074306
rs11074306
Entrez Id: 4948
Gene Symbol: OCA2
OCA2
CUI: C0220633
Disease:
Uveal melanoma 		A 0.700 GeneticVariation GWASCAT A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus. 28781888 2017