present in Gene: NSD1
present in Chromosome: 5
Position on Chromosome: 177283796
Alleles of this Variant: A/T
rs1057516048 in
NSD1 gene and
Broad forehead
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516048 in
NSD1 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.
rs1057516048 in
NSD1 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.
rs1057516048 in
NSD1 gene and
Mild Mental Retardation
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516048 in
NSD1 gene and
Pointed chin
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516048 in
NSD1 gene and
SOTOS SYNDROME 1
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057516048 in
NSD1 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.
rs1057516048 in
NSD1 gene and
Umbilical hernia
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.