Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042631
rs1042631
ACAN
CUI: C0263874
Disease: Degeneration of lumbar intervertebral disc
Degeneration of lumbar intervertebral disc 		0.010 GeneticVariation BEFREE The Evaluation of Proteoglycan Levels and the Possible Role of <i>ACAN</i> Gene (c.6423T>C) Variant in Patients with Lumbar Disc Degeneration Disease. 30804119

2019
dbSNP: rs11630187
rs11630187
ACAN
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340

2019
dbSNP: rs11633371
rs11633371
ACAN
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019
dbSNP: rs11854545
rs11854545
ACAN
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs11854545
rs11854545
ACAN
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs121913568
rs121913568
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		0.800 GeneticVariation UNIPROT A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. 19110214

2009
dbSNP: rs121913568
rs121913568
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1372399305
rs1372399305
ACAN
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 GeneticVariation BEFREE The assay identified p.A72G, p.I282V, and p.P491S variants of the PTPN11 gene and a p.I437T variant of the SOS1 gene in 4 cases with Noonan syndrome. 30541462

2018
dbSNP: rs1516794
rs1516794
ACAN
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.020 GeneticVariation BEFREE The risk haplotype CA and the protective haplotype TT, generated by rs3784757 and rs1516794, showed significant association with HM (p=0.0327 and 0.0304, OR=1.21 and 0.80, respectively). 24766640

2014
dbSNP: rs1516794
rs1516794
ACAN
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.020 GeneticVariation BEFREE Haplotypes rs3784757 and rs1516794 showed significant association with high myopia. 21743019

2011
dbSNP: rs1516797
rs1516797
ACAN
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		0.010 GeneticVariation BEFREE Self-reported Coloured participants (n=99), with a history of CTS release surgery (CTS), and 136 control participants, with no history of CTS symptoms (CON), were genotyped for ACAN rs1516797(G/T) and BGN rs1126499(C/T) variants. 25173489

2014
dbSNP: rs1567185220
rs1567185220
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1567186585
rs1567186585
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		A 0.700 CausalMutation CLINVAR

dbSNP: rs16942323
rs16942323
ACAN
CUI: C0005890
Disease: Body Height
Body Height 		C 0.700 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201

2017
dbSNP: rs16942333
rs16942333
ACAN
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs16942333
rs16942333
ACAN
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs16942333
rs16942333
ACAN
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs16942341
rs16942341
ACAN
CUI: C0489786
Disease: Height
Height 		T 0.700 GeneticVariation GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960

2010
dbSNP: rs16942341
rs16942341
ACAN
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019
dbSNP: rs16942341
rs16942341
ACAN
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698

2019
dbSNP: rs16942341
rs16942341
ACAN
CUI: C0005890
Disease: Body Height
Body Height 		T 0.700 GeneticVariation GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960

2010
dbSNP: rs16942341
rs16942341
ACAN
CUI: C0489786
Disease: Height
Height 		0.700 GeneticVariation GWASDB Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. 21194676

2011
dbSNP: rs1879529
rs1879529
ACAN
CUI: C0037369
Disease: Smoking
Smoking 		T 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: rs1879529
rs1879529
ACAN
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		G 0.700 GeneticVariation GWASCAT Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. 28448500

2017
dbSNP: rs1879529
rs1879529
ACAN
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. 28443625

2017