Gene HBD 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: HBD
Disorder: Haemoglobin variant
Allele Frequency: 0.0129816
Carrier Rate: 0.0256261
Max At-Risk Couples rate: 0.000656697
The table below lists all clinically relevant variants identified in the HBD gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 7 |
5255781 |
HBD |
NM_000519.4:c.-118C>T |
|
31 |
0.012982% |
