DisGeNET - a database of gene-disease associations

Idiopathic scoliosis, C0595995

Variant: rs2377005 ×

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs2377005

rs2377005

TIMP2 ; CEP295NL

0.010

GeneticVariation

BEFREE

The remaining two polymorphisms (rs2377005, rs11658743) showed no association with either clinical or radiographic IS characteristics.

2019