rs1024095026
|
|
Cardiomyopathies
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes.
|
23103869 |
2012 |
rs1057516044
|
|
Cantu syndrome
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057516044
|
|
Hirsutism
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057516044
|
|
Large head (disorder)
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057516044
|
|
Melanocortin 4 Receptor Deficiency
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057516044
|
|
Tall stature
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057516044
|
|
Macrostomia
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057516044
|
|
Congenital Epicanthus
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057516044
|
|
Patent ductus arteriosus
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057516044
|
|
Nasal bridge wide
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs121909304
|
|
CARDIOMYOPATHY, DILATED, 1O
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs12298510
|
|
Cantu syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555100687
|
|
Wolff-Parkinson-White Syndrome
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555179320
|
|
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 |
rs1555179320
|
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
|
15034580 |
2004 |
rs1555179320
|
|
Overgrowth
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
|
15034580 |
2004 |
rs1555179320
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Dominant missense mutations in ABCC9 cause Cantú syndrome.
|
22610116 |
2012 |
rs1555179320
|
|
Overgrowth
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Cantú syndrome is caused by mutations in ABCC9.
|
22608503 |
2012 |
rs1555179320
|
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.
|
10398267 |
1999 |
rs1555179320
|
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Cantú syndrome is caused by mutations in ABCC9.
|
22608503 |
2012 |
rs1555179320
|
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.
|
10398267 |
1999 |
rs1555179320
|
|
Multiple congenital anomalies
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Dominant missense mutations in ABCC9 cause Cantú syndrome.
|
22610116 |
2012 |
rs1555179320
|
|
Overgrowth
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.
|
10398267 |
1999 |
rs1555179320
|
|
CARDIOMYOPATHY, DILATED, 1O
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555179320
|
|
Overgrowth
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
|
23307537 |
2013 |