DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Retinal Dystrophies ×

Gene: PRPF31 ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs869312187

rs869312187

PRPF31

19

54128351

stop gained

C/A;T

snv

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

1.000

2016

2016

dbSNP:

rs1555792415

rs1555792415

PRPF31

19

54122531

frameshift variant

A/-

delins

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs868538598

rs868538598

PRPF31

1.000

0.080

19

54128187

stop gained

C/T

snv

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs878853331

rs878853331

PRPF31

19

54122573

frameshift variant

G/-

delins

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs878853334

rs878853334

PRPF31

19

54128121

stop gained

C/T

snv

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700

dbSNP:

rs878853335

rs878853335

PRPF31

19

54128094

stop gained

G/T

snv

CUI:	C0854723
Disease:	Retinal Dystrophies

Retinal Dystrophies

0.700