Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs528302390
rs528302390
PKD1L1
T 0.700 CausalMutation CLINVAR Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 27616478

2016
dbSNP: rs121434422
rs121434422
GDF1 ; CERS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554603293
rs1554603293
CHD7
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1424438515
rs1424438515
F11
0.010 GeneticVariation BEFREE Three novel variants: c.86C>A (p.A29E), c.296T>A (p.V99D) and c.1254delC (p.S418fs) were identified in patients with transposition of the great arteries, double outlet right ventricle and persistent truncus arteriosus, respectively, but in none of the 400 controls. 29101065

2018
dbSNP: rs61743125
rs61743125
PTCRA
0.010 GeneticVariation BEFREE Three novel variants: c.86C>A (p.A29E), c.296T>A (p.V99D) and c.1254delC (p.S418fs) were identified in patients with transposition of the great arteries, double outlet right ventricle and persistent truncus arteriosus, respectively, but in none of the 400 controls. 29101065

2018
dbSNP: rs16999358
rs16999358
DNMT1
0.010 GeneticVariation BEFREE Furthermore, logistic regression showed that sex and the rs16999358 SNP were two independent risk factors for complete TGA. 28323001

2017
dbSNP: rs16999593
rs16999593
DNMT1
0.010 GeneticVariation BEFREE Overall, the C/T genotype of the rs16999593 SNP in DNMT1 might decrease the risk of complete TGA pathogenesis in the Southern Chinese population. 28323001

2017
dbSNP: rs2228611
rs2228611
DNMT1
0.010 GeneticVariation BEFREE We genotyped 5 SNPs (rs16999593, rs16999358, and rs2228611 in DNMT1; and rs2276599 and rs2276598 in DNMT3A) in 206 patients with complete TGA and 252 healthy children. 28323001

2017
dbSNP: rs2276598
rs2276598
DNMT3A
0.010 GeneticVariation BEFREE We genotyped 5 SNPs (rs16999593, rs16999358, and rs2228611 in DNMT1; and rs2276599 and rs2276598 in DNMT3A) in 206 patients with complete TGA and 252 healthy children. 28323001

2017
dbSNP: rs2276599
rs2276599
DNMT3A
0.010 GeneticVariation BEFREE We genotyped 5 SNPs (rs16999593, rs16999358, and rs2228611 in DNMT1; and rs2276599 and rs2276598 in DNMT3A) in 206 patients with complete TGA and 252 healthy children. 28323001

2017
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
0.010 GeneticVariation BEFREE In stratification analyses, the TGFβ1 rs1800469 C>T genotype was associated with a decreased risk for tetralogy of fallot in homozygote comparisons (OR 0.47; 95% CI 0.22-0.99), a decreased risk for transposition of great artery in the dominant genetic model (OR 0.49; 95 % CI 0.28-0.87) and heterozygote comparisons (OR 0.45; 95% CI 0.24-0.83). 24443223

2014
dbSNP: rs1051266
rs1051266
SLC19A1
0.010 GeneticVariation BEFREE The RFC rs1051266 GA genotype was associated with an increased risk for TGA compared with wild-type homozygotes and, in the dominant genetic model, the RFC rs1051266 GA/AA genotype was also associated with a significantly increased risk of TGA compared with RFC rs1051266 GG genotypes. 22868813

2012
dbSNP: rs1801133
rs1801133
MTHFR
0.010 GeneticVariation BEFREE In stratification analyses, the MTHFR rs1801133 C>T genotype was associated with an increased risk for tetralogy of Fallot (TOF) and transposition of great artery (TGA) in homozygote comparisons, the dominant genetic model, and the recessive genetic model. 22868813

2012
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.010 GeneticVariation BEFREE This study, that firstly looked at genetic background in TGA, did not show a significant correlation between the BDNF Val66Met polymorphism and age of onset, risk factors, duration or recurrence of TGA. 18692116

2008
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.010 GeneticVariation BEFREE This study, that firstly looked at genetic background in TGA, did not show a significant correlation between the BDNF Val66Met polymorphism and age of onset, risk factors, duration or recurrence of TGA. 18692116

2008
dbSNP: rs1324026337
rs1324026337
TGM2
0.010 GeneticVariation BEFREE The first is a nonstop mutation in the normal stop codon 373 of the gene in exon IV [TGA (Stop) --> TGC (Cys) = Stop373C) identified from one allele of a female child with premature pubarche whose second allele had an E142K mutation. 12050213

2002
dbSNP: rs752163489
rs752163489
TMPRSS6
0.010 GeneticVariation BEFREE The first is a nonstop mutation in the normal stop codon 373 of the gene in exon IV [TGA (Stop) --> TGC (Cys) = Stop373C) identified from one allele of a female child with premature pubarche whose second allele had an E142K mutation. 12050213

2002
dbSNP: rs772953044
rs772953044
ACOT7
0.010 GeneticVariation BEFREE The first is a nonstop mutation in the normal stop codon 373 of the gene in exon IV [TGA (Stop) --> TGC (Cys) = Stop373C) identified from one allele of a female child with premature pubarche whose second allele had an E142K mutation. 12050213

2002