present in Gene: ALMS1
present in Chromosome: 2
Position on Chromosome: 73451171
Alleles of this Variant: -/A
rs1553403917 in
ALMS1 gene and
Alstrom Syndrome
PMID 29079548 2018 A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
rs1553403917 in
ALMS1 gene and
Mild short stature
PMID 29079548 2018 A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
rs1553403917 in
ALMS1 gene and
Obesity
PMID 29079548 2018 A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
rs1553403917 in
ALMS1 gene and
Progressive sensorineural hearing impairment
PMID 29079548 2018 A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
rs1553403917 in
ALMS1 gene and
Scoliosis, unspecified
PMID 29079548 2018 A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
rs1553403917 in
ALMS1 gene and
Steatohepatitis
PMID 29079548 2018 A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
rs1553403917 in
ALMS1 gene and
obsolete Rod-cone dystrophy
PMID 29079548 2018 A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.