FRMD4A, FERM domain containing 4A, 55691

N. diseases: 71; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025338
rs869025338
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C4225193
Disease:
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 		CCCTGGGACTCCAG 0.700 CausalMutation CLINVAR
dbSNP: rs7081208
rs7081208
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0002395
Disease:
Alzheimer's Disease 		A 0.800 GeneticVariation GWASCAT Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. 22430674 2013
dbSNP: rs7081208
rs7081208
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0002395
Disease:
Alzheimer's Disease 		0.800 GeneticVariation GWASDB Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. 22430674 2013
dbSNP: rs7074945
rs7074945
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
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: rs7074945
rs7074945
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
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: rs4750407
rs4750407
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0265240
Disease:
Goldenhar Syndrome 		A 0.700 GeneticVariation GWASCAT Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia. 26853712 2016
dbSNP: rs4424567
rs4424567
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0028043
Disease:
Nicotine Dependence 		0.010 GeneticVariation BEFREE Also, we found two SNPs significantly associated with ND; one in the FERM domain containing 4A (rs4424567, p value(meta) = 2.30 × 10(-6)) and the other at 7q31.1 (rs848353, p value(meta) = 9.16 × 10(-8)). 22006218 2012
dbSNP: rs41506144
rs41506144
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0008350
Disease:
Cholelithiasis 		0.700 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007
dbSNP: rs41506144
rs41506144
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0947622
Disease:
Cholecystolithiasis 		0.700 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007
dbSNP: rs2457840
rs2457840
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
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: rs2457837
rs2457837
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0039263
Disease:
Takayasu Arteritis 		T 0.700 GeneticVariation GWASCAT Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. 25604533 2015
dbSNP: rs2446597
rs2446597
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
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: rs2446588
rs2446588
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
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: rs2446581
rs2446581
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0002395
Disease:
Alzheimer's Disease 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. 22430674 2013
dbSNP: rs2292367
rs2292367
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
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: rs2169323
rs2169323
Entrez Id: 55691;101928453
Gene Symbol: FRMD4A;LOC101928453
FRMD4A;LOC101928453
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1887004
rs1887004
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0751676
Disease:
Basal Cell Cancer 		C 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs1887004
rs1887004
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0206710
Disease:
Basal Cell Neoplasm 		C 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs1887004
rs1887004
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0007117
Disease:
Basal cell carcinoma 		C 0.700 GeneticVariation GWASCAT Combined analysis of keratinocyte cancers identifies novel genome-wide loci. 31174203 2019
dbSNP: rs17314229
rs17314229
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0002395
Disease:
Alzheimer's Disease 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. 22430674 2013
dbSNP: rs17153734
rs17153734
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs17153734
rs17153734
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs12570849
rs12570849
Entrez Id: 55691
Gene Symbol: FRMD4A
FRMD4A
CUI: C0085278
Disease:
Antiphospholipid Syndrome 		C 0.700 GeneticVariation GWASCAT The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome. 28424481 2017
dbSNP: rs12413816
rs12413816
Entrez Id: 55691;105376426
Gene Symbol: FRMD4A;LOC105376426
FRMD4A;LOC105376426
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12413816
rs12413816
Entrez Id: 55691;105376426
Gene Symbol: FRMD4A;LOC105376426
FRMD4A;LOC105376426
CUI: C0427460
Disease:
Red cell distribution width determination 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016