Homo sapiens
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
NDD-1068-4-1
submitted sample id
NDD-1068-4-1
submitted subject id
NDD-1068-4-1
gap_sample_id
677029
gap_subject_id
549806
sex
male
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