Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519050
rs1057519050
TBX5
C 0.700 GeneticVariation CLINVAR

dbSNP: rs119473033
rs119473033
SMARCAL1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555528356
rs1555528356
ANKRD11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1568486679
rs1568486679
SMARCA4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397515415
rs397515415
HDAC8
A 0.700 CausalMutation CLINVAR

dbSNP: rs748106387
rs748106387
SMARCAL1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1210124629
rs1210124629
CRELD1
0.010 GeneticVariation BEFREE Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively. 30007050

2018
dbSNP: rs1323833193
rs1323833193
EGF
0.010 GeneticVariation BEFREE However, on the basis of sequence, as well as structure analysis, the variant c.973G>A(p.Glu325Lys) variant was identified only in DS having AVSD group which was predicted to have significant effects on calcium binding of putative CRELD1 protein. 29054759

2018
dbSNP: rs367652299
rs367652299
NFATC1
0.010 GeneticVariation BEFREE Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively. 30007050

2018
dbSNP: rs62096875
rs62096875
NFATC1
0.010 GeneticVariation BEFREE Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively. 30007050

2018
dbSNP: rs749275495
rs749275495
TBX1
0.010 GeneticVariation BEFREE Sequence analysis identified three missense variants in three individuals, including a subject with isolated AVSD [p.(Ala367Val)], an individual with AVSD and heterotaxy [p.(Val210Met)], and a subject with AVSD, heterotaxy, and oculo-auriculo-vertebral spectrum (OAVS) [p.(Ala696Thr)], respectively. 30007050

2018
dbSNP: rs755981922
rs755981922
CRELD1
0.010 GeneticVariation BEFREE However, on the basis of sequence, as well as structure analysis, the variant c.973G>A(p.Glu325Lys) variant was identified only in DS having AVSD group which was predicted to have significant effects on calcium binding of putative CRELD1 protein. 29054759

2018
dbSNP: rs755981922
rs755981922
CRELD1
0.010 GeneticVariation BEFREE However, on the basis of sequence, as well as structure analysis, the variant c.973G>A(p.Glu325Lys) variant was identified only in DS having AVSD group which was predicted to have significant effects on calcium binding of putative CRELD1 protein. 29054759

2018
dbSNP: rs376621016
rs376621016
TBX5
0.010 GeneticVariation BEFREE The TBX5 variation p.Pro108Thr, located in the T-box domain, was identified in a patient with tricuspid atresia, an exon-intron boundary variation of GATA4 (IVS4+5G>A) was detected in a Tetralogy of Fallot patient and an 8p23 microdeletion was detected in one patient with atrioventricular septal defect and psychomotor delay. 26490186

2016
dbSNP: rs4808863
rs4808863
GDF1 ; CERS1
0.010 GeneticVariation BEFREE Our results suggest that the GDF1 rs4808863 polymorphism contributes to an increased risk of fetal CHDs, especially the subtypes of AVSD, LVOTO and left-right laterality defects. 26656983

2015
dbSNP: rs3774207
rs3774207
CRELD1
0.010 GeneticVariation BEFREE In addition, two haplotypes, C-T-C and C-T-T, in the order of loci rs9878047-rs3774207-rs73118372 were associated with incidence of AVSD among euploid and Down syndrome, with a slightly higher odds ratio in the later group. 22987595

2012
dbSNP: rs73118372
rs73118372
CRELD1
0.010 GeneticVariation BEFREE In addition, two haplotypes, C-T-C and C-T-T, in the order of loci rs9878047-rs3774207-rs73118372 were associated with incidence of AVSD among euploid and Down syndrome, with a slightly higher odds ratio in the later group. 22987595

2012
dbSNP: rs9878047
rs9878047
CRELD1
0.010 GeneticVariation BEFREE In addition, two haplotypes, C-T-C and C-T-T, in the order of loci rs9878047-rs3774207-rs73118372 were associated with incidence of AVSD among euploid and Down syndrome, with a slightly higher odds ratio in the later group. 22987595

2012
dbSNP: rs137852686
rs137852686
NKX2-5
0.010 GeneticVariation BEFREE Surprisingly, all AVSD patients (22/23) had a single K183E mutation in the DNA binding domain, which resulted in transcriptional inactivation. 15917268

2005