Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2290547
rs2290547
SETD2
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		A 0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899

2017
dbSNP: rs2290547
rs2290547
SETD2
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		A 0.800 GeneticVariation GWASCAT Discovery and refinement of loci associated with lipid levels. 24097068

2013
dbSNP: rs2290547
rs2290547
SETD2
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		A 0.800 GeneticVariation GWASDB Discovery and refinement of loci associated with lipid levels. 24097068

2013
dbSNP: rs869025570
rs869025570
SETD2
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME 		C 0.800 CausalMutation CLINVAR

dbSNP: rs869025570
rs869025570
SETD2
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME 		0.800 GeneticVariation UNIPROT

dbSNP: rs1057523157
rs1057523157
SETD2
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057523157
rs1057523157
SETD2
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057523157
rs1057523157
SETD2
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057523157
rs1057523157
SETD2
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs114151323
rs114151323
SETD2
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs1169288572
rs1169288572
SETD2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 GeneticVariation UNIPROT

dbSNP: rs13063578
rs13063578
SETD2
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs13063578
rs13063578
SETD2
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs13063578
rs13063578
SETD2
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs13063578
rs13063578
SETD2
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs13063578
rs13063578
SETD2
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs1478147351
rs1478147351
SETD2
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.700 GeneticVariation UNIPROT

dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2. 28424246

2017
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort. 27317772

2016
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy. 26084711

2015
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Whole exome sequencing in females with autism implicates novel and candidate genes. 25574603

2015
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346

2014
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Mutations in SETD2 cause a novel overgrowth condition. 24852293

2014
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1553699115
rs1553699115
SETD2
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012