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: rs1060499738
rs1060499738
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060499738
rs1060499738
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C1843367
Disease:
Poor school performance 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1131692228
rs1131692228
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692228
rs1131692228
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0948187
Disease:
Tracheomalacia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692228
rs1131692228
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C1854882
Disease:
Absent speech 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692228
rs1131692228
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0454644
Disease:
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131692228
rs1131692228
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C1858120
Disease:
Generalized hypotonia 		T 0.700 CausalMutation CLINVAR
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: rs1052897
rs1052897
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 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: C0014772
Disease:
Red Blood Cell Count measurement 		A 0.700 GeneticVariation GWASCAT 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: 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: 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: 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
dbSNP: rs2075672
rs2075672
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0014772
Disease:
Red Blood Cell Count 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: rs10953299
rs10953299
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0018935
Disease:
Hematocrit procedure 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs7383856
rs7383856
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0524587
Disease:
Mean Corpuscular Volume (result) 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs1562846694
rs1562846694
Entrez Id: 7036;51412
Gene Symbol: TFR2;ACTL6B
TFR2;ACTL6B
CUI: C0240379
Disease:
Open mouth (finding) 		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: C1838114
Disease:
Generalized limb muscle atrophy 		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: C0344482
Disease:
Hypoplasia of corpus callosum 		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: C1853743
Disease:
Muscular hypotonia of the trunk 		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: C0240543
Disease:
Bulbous nose 		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: C0038379
Disease:
Strabismus 		G 0.700 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019