Gene SBDS Details
It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.
Gene: SBDS
Disorder: Shwachman-Diamond syndrome
Allele Frequency: 0.00167504
Carrier Rate: 0.00334447
Max At-Risk Couples rate: 0.0000112
The table below lists all clinically relevant variants identified in the SBDS gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 144 |
66459197 |
SBDS |
NM_016038.4:c.258+2T>C |
|
3 |
0.001256% |
| 750 |
66459273 |
SBDS |
NM_016038.4:c.184A>T |
NP_057122.2:p.Lys62Ter |
1 |
0.000419% |
