DisGeNET - a database of gene-disease associations

COFFIN-SIRIS SYNDROME 7, C4747954

Variant: rs1555032044 ×

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:

rs1555032044

rs1555032044

DPF2

0.800

GeneticVariation

UNIPROT

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

2018

dbSNP:

rs1555032044

rs1555032044

DPF2

G

0.800

CausalMutation

CLINVAR