Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13357230
rs13357230
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: rs140935700
rs140935700
CUI: C0373705
Disease: Progesterone measurement
Progesterone measurement
A 0.700 GeneticVariation GWASCAT Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease. 31169883

2019

dbSNP: rs2367281
rs2367281
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012

dbSNP: rs4489092
rs4489092
CUI: C0005890
Disease: Body Height
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs59661306
rs59661306
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
G 0.700 GeneticVariation GWASCAT Genome-wide association study of cervical cancer suggests a role for ARRDC3 gene in human papillomavirus infection. 30412241

2019

dbSNP: rs7709505
rs7709505
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
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: rs7709505
rs7709505
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: rs796051865
rs796051865
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C
G 0.700 CausalMutation CLINVAR