Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116

2012
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 GeneticVariation CLINVAR Cantú syndrome is caused by mutations in ABCC9. 22608503

2012
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Cantú syndrome is caused by mutations in ABCC9. 22608503

2012
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116

2012
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Cantú syndrome is caused by mutations in ABCC9. 22608503

2012
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 GeneticVariation CLINVAR Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116

2012
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 21344641

2011
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 21344641

2011
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 GeneticVariation CLINVAR Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 21344641

2011
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 17245405

2007
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 GeneticVariation CLINVAR KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 17245405

2007
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 17245405

2007
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. 16835932

2006
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. 16835932

2006
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 GeneticVariation CLINVAR Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. 16835932

2006
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580

2004
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 GeneticVariation CLINVAR ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580

2004
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580

2004
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267

1999
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267

1999
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C1849265
Disease: Overgrowth
Overgrowth 		T 0.700 GeneticVariation CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267

1999
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1565477732
rs1565477732
ABCC9
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs193922683
rs193922683
ABCC9
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs387907208
rs387907208
ABCC9
CUI: C1843367
Disease: Poor school performance
Poor school performance 		A 0.700 CausalMutation CLINVAR