Investigating Genetics in Suspected Congenital Syndromes
Demographics (2)
- SEX - Biological sex (phv00534287.v1.p1)
- SUBJECT_AGE - Subject age at time of electronic health record search (phv00534291.v1.p1)
Race and Ethnicity (1)
- SUBJECT_RACE - Self-reported race (phv00534293.v1.p1)
Other (16)
- ANALYTE_TYPE - Analyte type (phv00534303.v1.p1)
- BODY_SITE - Body site where sample was collected (phv00534302.v1.p1)
- CONSENT - Consent group as determined by DAC (phv00534286.v1.p1)
- IS_TUMOR - Tumor status (phv00534304.v1.p1)
- SAMPLE_ID - Sample ID (phv00534301.v1.p1)
- SAMPLE_ID - Sample ID (phv00534289.v1.p1)
- SUBJECT_ATOPY - Subject electronic health record contains atopy phenotype (phv00534298.v1.p1)
- SUBJECT_AUTOIMMUNITY - Subject electronic health record contains autoimmunity phenotype (phv00534297.v1.p1)
- SUBJECT_COLITIS - Subject electronic health record contains colitis phenotype (phv00534299.v1.p1)
- SUBJECT_DERMATITIS - Subject electronic health record contains dermatitis phenotype (phv00534300.v1.p1)
- SUBJECT_ID - Subject ID (phv00534290.v1.p1)
- SUBJECT_ID - Subject ID (phv00534285.v1.p1)
- SUBJECT_ID - Subject ID (phv00534288.v1.p1)
- SUBJECT_JAK1_R506C - Subject genotype encodes JAK1 R506C amino acid change (phv00534294.v1.p1)
- SUBJECT_JAK1_S700N - Subject genotype encodes JAK1 S700N amino acid change (phv00534295.v1.p1)
- SUBJECT_JAK1_V985I - Subject genotype encodes JAK1 V985I amino acid change (phv00534296.v1.p1)