Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6554199
rs6554199
KIT
0.020 GeneticVariation BEFREE The finding that the T allele of the c-kit rs6554199 polymorphism could be associated with achalasia as reported in a Turkish population could not be replicated in a Spanish cohort. 22917541

2012

dbSNP: rs6554199
rs6554199
KIT
0.020 GeneticVariation BEFREE Despite the small sample size and the possibility of a false positive finding, our preliminary data support the hypothesis that the T allele of the c-kit rs6554199 polymorphism may be associated with achalasia in the Turkish population. 21951831

2012

dbSNP: rs765613977
rs765613977
0.010 GeneticVariation BEFREE Later, they developed achalasia whereupon Allgrove syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. 29866068

2018

dbSNP: rs1799724
rs1799724
LTA ; TNF
0.010 GeneticVariation BEFREE SNPs in high LD with rs1799724 were associated with achalasia. 24259423

2014

dbSNP: rs2237025
rs2237025
KIT
0.010 GeneticVariation BEFREE No association of the c-kit rs2237025 polymorphism with achalasia was detected. 21951831

2012

dbSNP: rs2476601
rs2476601
0.010 GeneticVariation BEFREE Gender-specific association of the PTPN22 C1858T polymorphism with achalasia. 17961776

2007