DisGeNET - a database of gene-disease associations

rs1114167303, SON

N. diseases: 3

Disease: Global developmental delay ×

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Global developmental delay

CUI:	C0557874
Disease:	Global developmental delay

553

0.925

0.120

21

33553079

frameshift variant

GGTAT/-

delins

0.700

1.000

2016

2016