Gene: NKX2-5 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554093433
rs1554093433
NKX2-5
T 0.700 CausalMutation CLINVAR

dbSNP: rs879253754
rs879253754
NKX2-5
G 0.700 GeneticVariation CLINVAR

dbSNP: rs2277923
rs2277923
NKX2-5
0.020 GeneticVariation BEFREE The SNPs rs2277923 and rs3729753 are prominent single nucleotide variations (SNVs) in Chinese patients with sporadic atrial septal defect. 30982828

2019
dbSNP: rs2277923
rs2277923
NKX2-5
0.020 GeneticVariation BEFREE One single nucleotide polymorphism (rs2277923), the frequency of which was significantly higher in ASD group, and the allele and genotype were associated with the occurrence of ASD. 26297999

2016
dbSNP: rs3729753
rs3729753
NKX2-5
0.010 GeneticVariation BEFREE The SNPs rs2277923 and rs3729753 are prominent single nucleotide variations (SNVs) in Chinese patients with sporadic atrial septal defect. 30982828

2019
dbSNP: rs758277832
rs758277832
NKX2-5
0.010 GeneticVariation BEFREE Additionally, p.Phe145Leu in NKX2-5 associates with high degree atrioventricular block and atrial septal defect ( P<1.4×10<sup>-4</sup>). 30354339

2018
dbSNP: rs1345146178
rs1345146178
NKX2-5
0.010 GeneticVariation BEFREE As a result, a novel heterozygous NKX2.5 mutation, p.Q181X, was identified in an index patient with ASD and AVB, with a prevalence of ~1.61%. 28259982

2017
dbSNP: rs104893907
rs104893907
NKX2-5
0.010 GeneticVariation BEFREE This novel mutation (p.Tyr256X) was inherited in a three-generation family causing five individuals to have cardiac anomalies ranging from ASD to arrhythmias. 16896344

2006
dbSNP: rs104893900
rs104893900
NKX2-5
0.010 GeneticVariation BEFREE We found one previously documented NKX2-5 missense mutation, T178M, in members of a family with ASD without AV conduction block. 12798584

2003