Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499548
rs1060499548
ABL1
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: rs1554333853
rs1554333853
CDK13
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: rs527656756
rs527656756
HAAO ; MTA3
CA 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017
dbSNP: rs369634007
rs369634007
TMEM87B
G 0.700 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016
dbSNP: rs762292772
rs762292772
SHANK3
TG 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
dbSNP: rs1555628863
rs1555628863
GATA6
C 0.700 CausalMutation CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578

2014
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
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
T 0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1213930919
rs1213930919
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913528
rs121913528
KRAS
A 0.700 GeneticVariation CLINVAR

dbSNP: rs132630297
rs132630297
PHF6
T 0.700 CausalMutation CLINVAR

dbSNP: rs1344172059
rs1344172059
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs141322087
rs141322087
ABCC8
T 0.700 GeneticVariation CLINVAR

dbSNP: rs142239530
rs142239530
STIM1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs149830411
rs149830411
KANSL1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553154130
rs1553154130
RERE
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554093433
rs1554093433
NKX2-5
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555226315
rs1555226315
TBX5
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555429629
rs1555429629
RAD51
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555706928
rs1555706928
SETBP1
A 0.700 GeneticVariation CLINVAR