Variant: rs267607038 

    present in Gene: SETBP1
    present in Chromosome: 18
    Position on Chromosome: 44951952
    Alleles of this Variant: T/C;G

rs267607038 in SETBP1 gene and Arthrogryposis PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs267607038 in SETBP1 gene and Early severe fetal akinesia sequence PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs267607038 in SETBP1 gene and Myeloid Leukemia, Chronic PMID 23222956 2013 Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.

rs267607038 in SETBP1 gene and Schinzel-Giedion syndrome PMID 20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

PMID 28346496 2017 Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.

PMID 25028416 2015 West syndrome in a patient with Schinzel-Giedion syndrome.