DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Deafness ×

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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:

rs1559366084

rs1559366084

PJVK

2

178453569

frameshift variant

ACCTTTTACAC/-

delins

CUI:	C0011053
Disease:	Deafness

Deafness

0.700

dbSNP:

rs367688416

rs367688416

PJVK

2

178454526

stop gained

C/T

snv

1.6E-05

1.4E-05

CUI:	C0011053
Disease:	Deafness

Deafness

0.700

dbSNP:

rs538027448

rs538027448

PJVK

2

178453567

stop gained

C/G;T

snv

4.0E-06

CUI:	C0011053
Disease:	Deafness

Deafness

0.700