AFF4, AF4/FMR2 family member 4, 27125

N. diseases: 62; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205680
rs786205680
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C4085597
Disease:
CHOPS SYNDROME 		A 0.800 CausalMutation CLINVAR Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 25730767 2015
dbSNP: rs786205233
rs786205233
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C4085597
Disease:
CHOPS SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205233
rs786205233
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C4085597
Disease:
CHOPS SYNDROME 		C 0.800 CausalMutation CLINVAR
dbSNP: rs786205679
rs786205679
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C4085597
Disease:
CHOPS SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205679
rs786205679
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C4085597
Disease:
CHOPS SYNDROME 		C 0.800 CausalMutation CLINVAR
dbSNP: rs786205680
rs786205680
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C4085597
Disease:
CHOPS SYNDROME 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205680
rs786205680
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C4085597
Disease:
CHOPS SYNDROME 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs12163971
rs12163971
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs57880964
rs57880964
Entrez Id: 27125;116842
Gene Symbol: AFF4;LEAP2
AFF4;LEAP2
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs10038027
rs10038027
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs10479013
rs10479013
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs12653694
rs12653694
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs17691584
rs17691584
Entrez Id: 27125;100874502
Gene Symbol: AFF4;ATP6V0E1P1
AFF4;ATP6V0E1P1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2525485
rs2525485
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs3798128
rs3798128
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs739863
rs739863
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017