DisGeNET - a database of gene-disease associations

STRC, stereocilin, 161497

N. diseases: 25; N. variants: 12

Disease: Deafness, Autosomal Recessive 16 ×

Variant: rs727503443 ×

Source: ALL

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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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs727503443

1.000

0.120

43603362

missense variant

C/G

snv

2.0E-05

1.4E-05

CUI:	C1863561
Disease:	Deafness, Autosomal Recessive 16

Deafness, Autosomal Recessive 16

Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases

0.700