Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11538960
rs11538960
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.010 GeneticVariation BEFREE Significant association was found in a polymorphism in the ROCK1 gene (rs35996865), a polymorphism in ROCK2 gene (rs10178332), a polymorphism in RhoA gene (rs2177268) and two polymorphisms in RhoC gene (rs11102522 and rs11538960) with SSc disease (p < 0.0022). 26615410

2016

dbSNP: rs17228602
rs17228602
CUI: C1510472
Disease: Drug Dependence
Drug Dependence
0.010 GeneticVariation BEFREE Association of status of acetylcholinesterase and ACHE gene 3' UTR variants (rs17228602, rs17228616) with drug addiction vulnerability in pakistani population. 31129131

2019

dbSNP: rs17228602
rs17228602
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
0.010 GeneticVariation BEFREE A statistically significant association of ACHE rs17228602 SNP with addiction vulnerability in dominant (DM: Odd's ratio OR = 2.095, 95% CI = 1.157-3.807 p = 0.009) and allelic genetic models (OR = 1.854 95% CI = 1.082-3.187, p = 0.016) was observed. 31129131

2019

dbSNP: rs17228616
rs17228616
CUI: C1510472
Disease: Drug Dependence
Drug Dependence
0.010 GeneticVariation BEFREE Association of status of acetylcholinesterase and ACHE gene 3' UTR variants (rs17228602, rs17228616) with drug addiction vulnerability in pakistani population. 31129131

2019

dbSNP: rs17228616
rs17228616
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
0.010 GeneticVariation BEFREE The present study was carried out to investigate the role of acetylcholinesterase (AChE) in addiction through measurement of enzyme activity and to find potential association of ACHE gene 3'UTR variants rs17228602 and rs17228616 in heroin, hashish and poly drug addicts. 31129131

2019

dbSNP: rs17228616
rs17228616
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem
0.010 GeneticVariation BEFREE However, no statistically significant association of rs17228616 SNP with substance abuse disorder was found. 31129131

2019

dbSNP: rs751236171
rs751236171
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation BEFREE It has been proposed that the BCHE-K allele (Ala539Thr) acts in synergy with the APOE-ε4 allele to promote risk for AD. 30914707

2019