DisGeNET - a database of gene-disease associations

HEIMLER SYNDROME 2, C4225267

Variant: rs34324426 ×

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs34324426

rs34324426

PEX6

3

0.882

0.080

6

42967450

missense variant

C/T

snv

2.7E-03

2.9E-03

0.800

1.000

2009

2016