Subject ID, sample ID, and sample use variable obtained from participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.

pht002518
Description

pht002518

De-identified subject ID
Description

SUBJECT_ID

Type de données

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C4684638
De-identified sample ID
Description

SAMPLE_ID

Type de données

string

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C4684638
Sample use [Seq_DNA_SNP;Seq_DNA_WholeExome. Seq_DNA_SNP: SNP genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
Description

SAMPLE_USE

Type de données

text

Alias
UMLS CUI [1,1]
C1524063
UMLS CUI [1,2]
C2347026

Similar models

Subject ID, sample ID, and sample use variable obtained from participants with or without ciliopathies and involved in the "Ciliopathies Exome Sequencing Initiative" project.

Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
pht002518
SUBJECT_ID
Item
De-identified subject ID
string
C2348585 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
SAMPLE_ID
Item
De-identified sample ID
string
C1299222 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
SAMPLE_USE
Item
Sample use [Seq_DNA_SNP;Seq_DNA_WholeExome. Seq_DNA_SNP: SNP genotypes derived from sequence data; Seq_DNA_WholeExome: Whole exome sequencing
text
C1524063 (UMLS CUI [1,1])
C2347026 (UMLS CUI [1,2])