Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253779
rs879253779
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C4310757
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.800 GeneticVariation UNIPROT Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. 27392077 2016
dbSNP: rs879253780
rs879253780
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C4310757
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.800 GeneticVariation UNIPROT Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. 27392077 2016
dbSNP: rs879253779
rs879253779
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C4310757
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.800 GeneticVariation UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
dbSNP: rs879253780
rs879253780
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C4310757
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.800 GeneticVariation UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
dbSNP: rs730882223
rs730882223
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C4310757
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		G 0.800 CausalMutation CLINVAR
dbSNP: rs730882223
rs730882223
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C4310757
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.800 GeneticVariation UNIPROT
dbSNP: rs879253779
rs879253779
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C4310757
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		G 0.800 CausalMutation CLINVAR
dbSNP: rs879253780
rs879253780
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C4310757
Disease:
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1046934
rs1046934
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs2274432
rs2274432
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs10911505
rs10911505
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs16822427
rs16822427
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
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: rs16822427
rs16822427
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
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: rs1046934
rs1046934
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C4049938
Disease:
Physical Activity Measurement 		C 0.700 GeneticVariation GWASCAT Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. 28448500 2017
dbSNP: rs2274432
rs2274432
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C4049938
Disease:
Physical Activity Measurement 		A 0.700 GeneticVariation GWASCAT Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. 28448500 2017
dbSNP: rs2274432
rs2274432
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0037369
Disease:
Smoking 		A 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
dbSNP: rs2274432
rs2274432
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C1519383
Disease:
Smoking Behaviors 		A 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625 2017
dbSNP: rs971572
rs971572
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C1861172
Disease:
Venous Thromboembolism 		0.700 GeneticVariation GWASDB A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. 23509962 2013
dbSNP: rs1046934
rs1046934
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0489786
Disease:
Height 		A 0.700 GeneticVariation GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs1046934
rs1046934
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs2274432
rs2274432
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0489786
Disease:
Height 		T 0.700 GeneticVariation GWASDB Many sequence variants affecting diversity of adult human height. 18391951 2008
dbSNP: rs2274432
rs2274432
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0005890
Disease:
Body Height 		T 0.700 GeneticVariation GWASCAT Many sequence variants affecting diversity of adult human height. 18391951 2008
dbSNP: rs730882223
rs730882223
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0014544
Disease:
Epilepsy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs730882223
rs730882223
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0431350
Disease:
Primary microcephaly 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs730882223
rs730882223
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
CUI: C0557874
Disease:
Global developmental delay 		G 0.700 GeneticVariation CLINVAR