DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: Skin Pigmentation ×

Variant: rs12203592 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs12203592

IRF4

CUI:	C0037290
Disease:	Skin Pigmentation

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:

rs12203592

IRF4

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

0.700

GeneticVariation

GWASCAT

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

25963972

2015

dbSNP:

rs12203592

IRF4

CUI:	C0037290
Disease:	Skin Pigmentation

Skin Pigmentation

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