SLC45A2, solute carrier family 45 member 2, 51151

N. diseases: 75; N. variants: 46
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs16891982
rs16891982
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0018498
Disease:
Hair Color 		0.800 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs16891982
rs16891982
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0037290
Disease:
Skin Pigmentation 		0.800 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351 2018
dbSNP: rs16891982
rs16891982
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0015396
Disease:
Eye Color 		0.800 GeneticVariation GWASCAT Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. 30166351 2018
dbSNP: rs16891982
rs16891982
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0037290
Disease:
Skin Pigmentation 		G 0.800 GeneticVariation GWASCAT Identification of a novel locus associated with skin colour in African-admixed populations. 28300201 2017
dbSNP: rs16891982
rs16891982
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0018498
Disease:
Hair Color 		0.800 GeneticVariation GWASCAT Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample. 26184321 2015
dbSNP: rs121912620
rs121912620
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C1847836
Disease:
Oculocutaneous Albinism, Type IV 		0.800 GeneticVariation UNIPROT DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 23504663 2013
dbSNP: rs121912621
rs121912621
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C1847836
Disease:
Oculocutaneous Albinism, Type IV 		0.800 GeneticVariation UNIPROT DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 23504663 2013
dbSNP: rs35390
rs35390
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
dbSNP: rs35390
rs35390
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0025202
Disease:
melanoma 		0.800 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
dbSNP: rs121912620
rs121912620
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C1847836
Disease:
Oculocutaneous Albinism, Type IV 		0.800 GeneticVariation UNIPROT A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. 19865097 2010
dbSNP: rs121912621
rs121912621
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C1847836
Disease:
Oculocutaneous Albinism, Type IV 		0.800 GeneticVariation UNIPROT A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. 19865097 2010
dbSNP: rs16891982
rs16891982
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0018498
Disease:
Hair Color 		C 0.800 GeneticVariation GWASCAT Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs16891982
rs16891982
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0015396
Disease:
Eye Color 		0.800 GeneticVariation GWASDB Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs16891982
rs16891982
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0015396
Disease:
Eye Color 		C 0.800 GeneticVariation GWASCAT Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs16891982
rs16891982
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0018498
Disease:
Hair Color 		0.800 GeneticVariation GWASDB Web-based, participant-driven studies yield novel genetic associations for common traits. 20585627 2010
dbSNP: rs28777
rs28777
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0018498
Disease:
Hair Color 		C 0.800 GeneticVariation GWASCAT A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. 18483556 2008
dbSNP: rs28777
rs28777
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0018498
Disease:
Hair Color 		C 0.800 GeneticVariation GWASDB A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. 18483556 2008
dbSNP: rs121912620
rs121912620
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C1847836
Disease:
Oculocutaneous Albinism, Type IV 		0.800 GeneticVariation UNIPROT SLC45A2 variations in Indian oculocutaneous albinism patients. 17768386 2007
dbSNP: rs121912621
rs121912621
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C1847836
Disease:
Oculocutaneous Albinism, Type IV 		0.800 GeneticVariation UNIPROT SLC45A2 variations in Indian oculocutaneous albinism patients. 17768386 2007
dbSNP: rs16891982
rs16891982
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0037290
Disease:
Skin Pigmentation 		C 0.800 GeneticVariation GWASCAT A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
dbSNP: rs16891982
rs16891982
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C0037290
Disease:
Skin Pigmentation 		C 0.800 GeneticVariation GWASDB A genomewide association study of skin pigmentation in a South Asian population. 17999355 2007
dbSNP: rs121912620
rs121912620
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C1847836
Disease:
Oculocutaneous Albinism, Type IV 		0.800 GeneticVariation UNIPROT A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. 15656822 2005
dbSNP: rs121912621
rs121912621
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C1847836
Disease:
Oculocutaneous Albinism, Type IV 		0.800 GeneticVariation UNIPROT A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. 15656822 2005
dbSNP: rs121912620
rs121912620
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C1847836
Disease:
Oculocutaneous Albinism, Type IV 		0.800 GeneticVariation UNIPROT Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. 14722913 2004
dbSNP: rs121912620
rs121912620
Entrez Id: 51151
Gene Symbol: SLC45A2
SLC45A2
CUI: C1847836
Disease:
Oculocutaneous Albinism, Type IV 		0.800 GeneticVariation UNIPROT Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. 14961451 2004