DPF2, double PHD fingers 2, 5977

N. diseases: 99; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555031372
rs1555031372
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C4747954
Disease:
COFFIN-SIRIS SYNDROME 7 		0.800 GeneticVariation UNIPROT Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018
dbSNP: rs1555031500
rs1555031500
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C4747954
Disease:
COFFIN-SIRIS SYNDROME 7 		0.800 GeneticVariation UNIPROT Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018
dbSNP: rs1555032044
rs1555032044
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C4747954
Disease:
COFFIN-SIRIS SYNDROME 7 		0.800 GeneticVariation UNIPROT Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018
dbSNP: rs1555032051
rs1555032051
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C4747954
Disease:
COFFIN-SIRIS SYNDROME 7 		0.800 GeneticVariation UNIPROT Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018
dbSNP: rs1555031372
rs1555031372
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C4747954
Disease:
COFFIN-SIRIS SYNDROME 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1555031500
rs1555031500
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C4747954
Disease:
COFFIN-SIRIS SYNDROME 7 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1555032044
rs1555032044
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C4747954
Disease:
COFFIN-SIRIS SYNDROME 7 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1555032051
rs1555032051
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C4747954
Disease:
COFFIN-SIRIS SYNDROME 7 		A 0.800 CausalMutation CLINVAR
dbSNP: rs7950149
rs7950149
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs1555031372
rs1555031372
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C1843367
Disease:
Poor school performance 		T 0.700 CausalMutation CLINVAR Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018
dbSNP: rs1555031372
rs1555031372
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C3281201
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		T 0.700 CausalMutation CLINVAR Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. 29429572 2018
dbSNP: rs1555032074
rs1555032074
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
CUI: C4747954
Disease:
COFFIN-SIRIS SYNDROME 7 		A 0.700 CausalMutation CLINVAR