DisGeNET - a database of gene-disease associations

rs1805007, MC1R

N. diseases: 25

Disease: Skin Pigmentation ×

Source: ALL

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Skin Pigmentation

CUI:	C0037290
Disease:	Skin Pigmentation

72

0.695

0.280

16

89919709

missense variant

C/A;G;T

snv

4.4E-02

0.700

1.000

2013

2018