Phenotype Genotype Biomarkers (PGB)

Demographics (3)

Disease Events (2)

  • C9HRE - C9orf72 hexanucleotide repeat expansion (Yes/No) (phv00571430.v1.p1)
  • FamHx_c - Yes = Study participant reported family history of ALS and/or a related disorder (phv00571422.v1.p1)

Race and Ethnicity (2)

Other (14)

  • ANALYTE_TYPE - The analyte type of the sample (phv00571427.v1.p1)
  • ATXN2_R1 - ATXN2 repeat length, allele 1 (phv00571428.v1.p1)
  • ATXN2_R2 - ATXN2 repeat length, allele 2 (phv00571429.v1.p1)
  • BODY_SITE - The collection site of the sample (phv00571426.v1.p1)
  • CONSENT - Registered consent groups (Data Use Limitations (DUL)) as determined by submitters' Institutional Review Boards (IRB) or equivalent body. (phv00571411.v1.p1)
  • CReATeID - CReATe participant ID. Use this to link to genotype calls in the VCF file submitted to dbGaP. (phv00571415.v1.p1)
  • CReATeID - CReATe Subject ID (phv00571410.v1.p1)
  • CReATeID - Subject ID (phv00571413.v1.p1)
  • DxGrp - Diagnosis group (ALS/PMA/PLS/HSP/other), based on last evaluation in PGB1 study (phv00571416.v1.p1)
  • DxGrp_note - Additional information regarding the diagnosis (phv00571417.v1.p1)
  • Familial - Compiled from FamHx_c and RelInd. If either is Yes, Famiilal=Yes. Else Familial=No. (phv00571424.v1.p1)
  • RelInd - Yes = Study participant is genetically related to at least 1 other individual in the PGB1 cohort (up to 2nd degree of relatedness, defined by PC-relate using genotype calls) (phv00571423.v1.p1)
  • SJID - St. Jude sample ID. Use this to link to mapped sequencing reads in BAM file in St Jude Cloud (additional request required for access). (phv00571425.v1.p1)
  • SJID - Sample ID (phv00571414.v1.p1)