Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs234280
rs234280
Entrez Id: 6296;116285;105379461
Gene Symbol: ACSM3;ACSM1;LOC105379461
ACSM3;ACSM1;LOC105379461
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs35518073
rs35518073
Entrez Id: 6296;55623
Gene Symbol: ACSM3;THUMPD1
ACSM3;THUMPD1
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1551568
rs1551568
Entrez Id: 6296;116285
Gene Symbol: ACSM3;ACSM1
ACSM3;ACSM1
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: rs1551568
rs1551568
Entrez Id: 6296;116285
Gene Symbol: ACSM3;ACSM1
ACSM3;ACSM1
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: rs163234
rs163234
Entrez Id: 6296;116285
Gene Symbol: ACSM3;ACSM1
ACSM3;ACSM1
CUI: C1269683
Disease:
Major Depressive Disorder
0.010 GeneticVariation BEFREE SNP rs163234 was found to be significantly associated with both SCZ (permutated Pallele=1.700×10(-3), OR=1.350 [95% CI=1.152-1.581]) and MDD (permutated Pallele=4.800×10(-3), OR=1.329 [95% CI=1.127-1.567]). 25656805 2015
dbSNP: rs163234
rs163234
Entrez Id: 6296;116285
Gene Symbol: ACSM3;ACSM1
ACSM3;ACSM1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE SNP rs163234 was found to be significantly associated with both SCZ (permutated Pallele=1.700×10(-3), OR=1.350 [95% CI=1.152-1.581]) and MDD (permutated Pallele=4.800×10(-3), OR=1.329 [95% CI=1.127-1.567]). 25656805 2015
dbSNP: rs433598
rs433598
Entrez Id: 6296;116285
Gene Symbol: ACSM3;ACSM1
ACSM3;ACSM1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE SNP rs433598 showed a strong association with SCZ (permutated Pallele=4.300×10(-3), OR=1.303 [95% CI=1.117-1.520]). 25656805 2015