Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499548
rs1060499548
ABL1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
dbSNP: rs1163944538
rs1163944538
TMEM94
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		T 0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs121913528
rs121913528
KRAS
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs132630297
rs132630297
PHF6
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1344172059
rs1344172059
ABCC8
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		A 0.700 CausalMutation CLINVAR

dbSNP: rs141322087
rs141322087
ABCC8
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs142239530
rs142239530
STIM1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs149830411
rs149830411
KANSL1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1553154130
rs1553154130
RERE
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1554093433
rs1554093433
NKX2-5
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554333853
rs1554333853
CDK13
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs1554700718
rs1554700718
HNRNPK
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555226315
rs1555226315
TBX5
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555429629
rs1555429629
RAD51
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555628863
rs1555628863
GATA6
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		C 0.700 CausalMutation CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578

2014
dbSNP: rs1555706928
rs1555706928
SETBP1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555932766
rs1555932766
USP9X
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1556009247
rs1556009247
HDAC8
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1557962794
rs1557962794
RIT1
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		G 0.700 CausalMutation CLINVAR