Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0270612
Disease:
Leukoencephalopathy
0.710 GeneticVariation BEFREE Using whole exome sequencing (WES), we identified homozygosity for a missense variant, VPS11: c.2536T>G (p.C846G), as the genetic cause of a leukoencephalopathy syndrome in five individuals from three unrelated Ashkenazi Jewish (AJ) families. 27120463 2016
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0270612
Disease:
Leukoencephalopathy
G 0.710 CausalMutation CLINVAR
dbSNP: rs3825061
rs3825061
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
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: rs3825061
rs3825061
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0205682
Disease:
Waist-Hip Ratio
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: rs7925100
rs7925100
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1185460
rs1185460
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
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: rs15818
rs15818
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1305855
Disease:
Body mass index
G 0.700 GeneticVariation GWASCAT Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. 29273807 2018
dbSNP: rs7122226
rs7122226
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0392885
Disease:
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs7122226
rs7122226
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0428472
Disease:
Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0454644
Disease:
Delayed speech and language development
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C4225247
Disease:
LEUKODYSTROPHY, HYPOMYELINATING, 12
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0006009
Disease:
Borderline intellectual disability
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0005697
Disease:
Neurogenic Urinary Bladder
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1845245
Disease:
Lower limb hypertonia
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0494475
Disease:
Tonic - clonic seizures
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1837397
Disease:
Severe global developmental delay
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1836923
Disease:
Gastrointestinal dysmotility
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C4048268
Disease:
Cortical visual impairment
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0029124
Disease:
Optic Atrophy
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1858120
Disease:
Generalized hypotonia
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1859736
Disease:
Progressive spastic quadriplegia
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0740927
Disease:
Elevated maternal serum alpha-fetoprotein
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C3161330
Disease:
Profound intellectual disabilities
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0013363
Disease:
Dysautonomia
G 0.700 CausalMutation CLINVAR
dbSNP: rs34757931
rs34757931
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C0013421
Disease:
Dystonia
G 0.700 CausalMutation CLINVAR