Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12716850
rs12716850
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
A 0.800 GeneticVariation GWASCAT Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291

2012

dbSNP: rs12716850
rs12716850
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
A 0.800 GeneticVariation GWASDB Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291

2012

dbSNP: rs587777127
rs587777127
MAF ; WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.800 GeneticVariation UNIPROT The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. 24456803

2014

dbSNP: rs587777127
rs587777127
MAF ; WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.800 GeneticVariation UNIPROT The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. 24369382

2014

dbSNP: rs587777127
rs587777127
MAF ; WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
C 0.800 CausalMutation CLINVAR

dbSNP: rs587777128
rs587777128
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.800 GeneticVariation UNIPROT The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. 24369382

2014

dbSNP: rs587777128
rs587777128
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.800 GeneticVariation UNIPROT The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. 24456803

2014

dbSNP: rs587777128
rs587777128
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
A 0.800 CausalMutation CLINVAR

dbSNP: rs730880292
rs730880292
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
0.800 GeneticVariation UNIPROT

dbSNP: rs730880292
rs730880292
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
G 0.800 CausalMutation CLINVAR

dbSNP: rs8056446
rs8056446
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
A 0.800 GeneticVariation GWASDB Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291

2012

dbSNP: rs8056446
rs8056446
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
A 0.800 GeneticVariation GWASCAT Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. 23284291

2012

dbSNP: rs9923451
rs9923451
CUI: C0028754
Disease: Obesity
Obesity
0.800 GeneticVariation GWASDB A genome-wide association study on obesity and obesity-related traits. 21552555

2011

dbSNP: rs9923451
rs9923451
CUI: C0028754
Disease: Obesity
Obesity
0.800 GeneticVariation GWASCAT A genome-wide association study on obesity and obesity-related traits. 21552555

2011

dbSNP: rs1057518795
rs1057518795
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502727
rs1060502727
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502727
rs1060502727
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1079572
rs1079572
CUI: C0042834
Disease: Vital capacity
Vital capacity
G 0.700 GeneticVariation GWASCAT Genome-wide association analysis identifies six new loci associated with forced vital capacity. 24929828

2014

dbSNP: rs1110544
rs1110544
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs113496184
rs113496184
CUI: C0037369
Disease: Smoking
Smoking
0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186

2015

dbSNP: rs113496184
rs113496184
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186

2015

dbSNP: rs1164465811
rs1164465811
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1164465811
rs1164465811
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
A 0.700 GeneticVariation CLINVAR

dbSNP: rs119487098
rs119487098
ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
C 0.700 CausalMutation CLINVAR

dbSNP: rs12149527
rs12149527
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
A 0.700 GeneticVariation GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602

2013