Variant: rs1555179320 

    present in Gene: LOC105369689;ABCC9
    present in Chromosome: 12
    Position on Chromosome: 21817283
    Alleles of this Variant: C/T

rs1555179320 in LOC105369689;ABCC9 gene and Dysmorphic features PMID 17245405 2007 KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.

PMID 15034580 2004 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.

PMID 10398267 1999 Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

PMID 21344641 2011 Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

PMID 16835932 2006 Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

PMID 23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

rs1555179320 in LOC105369689;ABCC9 gene and Multiple congenital anomalies PMID 21344641 2011 Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

PMID 15034580 2004 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

PMID 16835932 2006 Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

PMID 17245405 2007 KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.

PMID 10398267 1999 Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

PMID 23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.

rs1555179320 in LOC105369689;ABCC9 gene and Overgrowth PMID 16835932 2006 Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.

PMID 23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

PMID 15034580 2004 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

PMID 21344641 2011 Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

PMID 10398267 1999 Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

PMID 17245405 2007 KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.