HIVEP2, HIVEP zinc finger 2, 3097

N. diseases: 42; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12154082
rs12154082
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs198663
rs198663
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs198665
rs198665
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs3383
rs3383
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs62430713
rs62430713
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C0007222
Disease:
Cardiovascular Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs765875
rs765875
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C1305855
Disease:
Body mass index 		T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs765875
rs765875
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7763660
rs7763660
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9390032
rs9390032
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4896604
rs4896604
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C1956346
Disease:
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs765876
rs765876
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C0005910
Disease:
Body Weight 		A 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs1554274371
rs1554274371
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Loss-of-function variants in HIVEP2 are a cause of intellectual disability. 26153216 2016
dbSNP: rs1554274371
rs1554274371
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. 27003583 2016
dbSNP: rs1554274371
rs1554274371
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
dbSNP: rs1554274371
rs1554274371
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Genome-wide repression of NF-κB target genes by transcription factor MIBP1 and its modulation by O-linked β-N-acetylglucosamine (O-GlcNAc) transferase. 22294689 2012
dbSNP: rs1562505675
rs1562505675
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C4310771
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		CCTGACTGTCCATGTGCATGATCTGTGGCTGGG 0.700 CausalMutation CLINVAR
dbSNP: rs761993070
rs761993070
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C4310771
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		A 0.700 CausalMutation CLINVAR
dbSNP: rs869312841
rs869312841
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C4310771
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		A 0.700 CausalMutation CLINVAR
dbSNP: rs869312843
rs869312843
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C4310771
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		A 0.700 CausalMutation CLINVAR
dbSNP: rs869312844
rs869312844
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C4310771
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		TC 0.700 CausalMutation CLINVAR
dbSNP: rs878853251
rs878853251
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C4310771
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		T 0.700 CausalMutation CLINVAR
dbSNP: rs878853269
rs878853269
Entrez Id: 3097
Gene Symbol: HIVEP2
HIVEP2
CUI: C4310771
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 		A 0.700 CausalMutation CLINVAR