DisGeNET - a database of gene-disease associations

rs28940876, TYR;LOC107984363

N. diseases: 5

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.

Oculocutaneous albinism type 1A

CUI:	C4551504
Disease:	Oculocutaneous albinism type 1A

101

0.827

0.160

11

89178195

missense variant

C/T

snv

8.4E-05

1.7E-04

0.810

1.000

1990

2014

Albinism, Oculocutaneous

CUI:	C0078918
Disease:	Albinism, Oculocutaneous

45

0.827

0.160

11

89178195

missense variant

C/T

snv

8.4E-05

1.7E-04

0.710

1.000

1990

2008

Albinism

CUI:	C0001916
Disease:	Albinism

27

0.827

0.160

11

89178195

missense variant

C/T

snv

8.4E-05

1.7E-04

0.700

1.000

1990

1990

ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)

CUI:	C1847024
Disease:	ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)

24

0.827

0.160

11

89178195

missense variant

C/T

snv

8.4E-05

1.7E-04

0.700

Yellow mutant oculocutaneous albinism

CUI:	C0268500
Disease:	Yellow mutant oculocutaneous albinism

2

0.827

0.160

11

89178195

missense variant

C/T

snv

8.4E-05

1.7E-04

0.010

1.000

1991

1991