present in Gene: ABCC9
present in Chromosome: 12
Position on Chromosome: 21913005
Alleles of this Variant: A/G
rs1057516044 in
ABCC9 gene and
Cantu syndrome
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516044 in
ABCC9 gene and
Congenital Epicanthus
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516044 in
ABCC9 gene and
Hirsutism
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516044 in
ABCC9 gene and
Large head (disorder)
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516044 in
ABCC9 gene and
Macrostomia
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516044 in
ABCC9 gene and
Melanocortin 4 Receptor Deficiency
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516044 in
ABCC9 gene and
Nasal bridge wide
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516044 in
ABCC9 gene and
Patent ductus arteriosus
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516044 in
ABCC9 gene and
Tall stature
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.