DisGeNET - a database of gene-disease associations

rs121917747, SPR

N. diseases: 2

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.

Dystonia

CUI:	C0013421
Disease:	Dystonia

97

1.000

0.200

2

72891502

stop gained

A/T

snv

8.0E-05

5.6E-05

0.700

1.000

2006

2006

Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

CUI:	C0268468
Disease:	Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

9

1.000

0.200

2

72891502

stop gained

A/T

snv

8.0E-05

5.6E-05

0.700