| attributes |
| gap_accession |
phs000288 |
| submitter handle |
NHGRI_Ciliopathies_Exome |
| biospecimen repository |
NHGRI_Ciliopathies_Exome |
| study name |
Ciliopathies Exome Sequencing Initiative |
| study design |
Case-Control |
| biospecimen repository sample id |
0242-NDD |
| submitted sample id |
0242-NDD |
| submitted subject id |
0242-NDD |
| gap_sample_id |
676907 |
| gap_subject_id |
549684 |
| sex |
female |
| study disease |
Congenital Abnormalities |
| body site |
whole blood |
| histological type |
whole blood |
| analyte type |
DNA |
| is tumor |
No |
| subject is affected |
Yes |
| molecular data type |
SNP/CNV Genotypes (NGS) |
| gap_consent_code |
1 |
| gap_consent_short_name |
GRU |
|