Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907283
rs387907283
SMAD6
0.800 GeneticVariation UNIPROT

dbSNP: rs387907283
rs387907283
SMAD6
T 0.800 CausalMutation CLINVAR

dbSNP: rs387907284
rs387907284
SMAD6
T 0.800 CausalMutation CLINVAR

dbSNP: rs387907284
rs387907284
SMAD6
0.800 GeneticVariation UNIPROT

dbSNP: rs104894382
rs104894382
TBX5
A 0.700 CausalMutation CLINVAR The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects. 25931334

2015
dbSNP: rs1565923835
rs1565923835
TBX5
C 0.700 CausalMutation CLINVAR Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. 25500235

2014
dbSNP: rs104894378
rs104894378
TBX5
T 0.700 CausalMutation CLINVAR Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. 20519243

2010
dbSNP: rs104894382
rs104894382
TBX5
A 0.700 CausalMutation CLINVAR Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. 20519243

2010
dbSNP: rs863223788
rs863223788
TBX5
A 0.700 CausalMutation CLINVAR Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome. 21637475

2010
dbSNP: rs886041247
rs886041247
TBX5
T 0.700 CausalMutation CLINVAR Novel TBX5 mutations in patients with Holt-Oram syndrome. 17534187

2007
dbSNP: rs104894382
rs104894382
TBX5
A 0.700 CausalMutation CLINVAR Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. 16380715

2006
dbSNP: rs1565923835
rs1565923835
TBX5
C 0.700 CausalMutation CLINVAR Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. 16917909

2006
dbSNP: rs1565941072
rs1565941072
TBX5
C 0.700 GeneticVariation CLINVAR Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. 16917909

2006
dbSNP: rs1555225344
rs1555225344
TBX5
A 0.700 CausalMutation CLINVAR TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. 16183809

2005
dbSNP: rs1565941072
rs1565941072
TBX5
C 0.700 GeneticVariation CLINVAR TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. 16183809

2005
dbSNP: rs886041247
rs886041247
TBX5
T 0.700 CausalMutation CLINVAR Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome. 15710732

2005
dbSNP: rs104894378
rs104894378
TBX5
T 0.700 CausalMutation CLINVAR Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. 12499378

2003
dbSNP: rs104894378
rs104894378
TBX5
T 0.700 CausalMutation CLINVAR Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. 12789647

2003
dbSNP: rs104894382
rs104894382
TBX5
A 0.700 CausalMutation CLINVAR Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome. 12499378

2003
dbSNP: rs104894382
rs104894382
TBX5
A 0.700 CausalMutation CLINVAR Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. 12789647

2003
dbSNP: rs1555225344
rs1555225344
TBX5
A 0.700 CausalMutation CLINVAR Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. 12789647

2003
dbSNP: rs886041247
rs886041247
TBX5
T 0.700 CausalMutation CLINVAR Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. 12789647

2003
dbSNP: rs104894378
rs104894378
TBX5
T 0.700 CausalMutation CLINVAR Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. 11555635

2001
dbSNP: rs104894378
rs104894378
TBX5
T 0.700 CausalMutation CLINVAR Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. 10077612

1999
dbSNP: rs104894382
rs104894382
TBX5
A 0.700 CausalMutation CLINVAR Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. 10077612

1999