ACTL6B, actin like 6B, 51412

N. diseases: 100; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0423224
Disease:
Sunken eyes 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1846151
Disease:
Widened subarachnoid space 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1865916
Disease:
Bilateral ptosis 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1273957
Disease:
Upper limb spasticity 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4072950
Disease:
Abnormal timing of pattern reversal visual evoked potentials 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0036572
Disease:
Seizures 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4021219
Disease:
Multifocal epileptiform discharges 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0240635
Disease:
Byzanthine arch palate 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0151786
Disease:
Muscle Weakness 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C2315100
Disease:
Pediatric failure to thrive 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4023476
Disease:
EEG with generalized epileptiform discharges 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1859339
Disease:
Midfrontal capillary hemangioma 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1852504
Disease:
Misalignment of teeth 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1837458
Disease:
Impaired smooth pursuit 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4021152
Disease:
Abnormal CNS myelination 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1866195
Disease:
Downturned corners of mouth 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
dbSNP: rs2075672
rs2075672
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		A 0.800 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs2075672
rs2075672
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		G 0.800 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2075672
rs2075672
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0518015
Disease:
Hemoglobin measurement 		0.700 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
dbSNP: rs2075672
rs2075672
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017
dbSNP: rs2075672
rs2075672
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. 28453575 2017
dbSNP: rs2075672
rs2075672
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0032181
Disease:
Platelet Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2075672
rs2075672
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2075672
rs2075672
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2075672
rs2075672
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0018935
Disease:
Hematocrit procedure 		A 0.700 GeneticVariation GWASCAT Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. 28017375 2017