DisGeNET - a database of gene-disease associations

rs1042602, LOC107984363;TYR

N. diseases: 6

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

0.925

0.080

11

89178528

missense variant

C/A

snv

0.25

0.24

0.800

1.000

2007

2018

Freckles

CUI:	C0016689
Disease:	Freckles

10

0.925

0.080

11

89178528

missense variant

C/A

snv

0.25

0.24

0.700

1.000

2007

2007

Hair Color

CUI:	C0018498
Disease:	Hair Color

312

0.925

0.080

11

89178528

missense variant

C/A

snv

0.25

0.24

0.700

1.000

2018

2018

Melanosis

CUI:	C0025209
Disease:	Melanosis

23

0.925

0.080

11

89178528

missense variant

C/A

snv

0.25

0.24

0.700

1.000

2007

2007

Tonometry

CUI:	C0040420
Disease:	Tonometry

573

0.925

0.080

11

89178528

missense variant

C/A

snv

0.25

0.24

0.700

1.000

2018

2018

Squamous cell carcinoma

CUI:	C0007137
Disease:	Squamous cell carcinoma

257

0.925

0.080

11

89178528

missense variant

C/A

snv

0.25

0.24

0.010

1.000

2009

2009