Gene SI 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: SI
Disorder: Sucrase isomaltase deficiency
Allele Frequency: 0.00293132
Carrier Rate: 0.00584546
Max At-Risk Couples rate: 0.0000342
The table below lists all clinically relevant variants identified in the SI gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 93 |
164712061 |
SI |
NM_001041.4:c.4825C>T |
NP_001032.2:p.Arg1609Ter |
4 |
0.001675% |
| 265 |
164781284 |
SI |
NM_001041.4:c.853G>T |
NP_001032.2:p.Glu285Ter |
2 |
0.000838% |
| 666 |
164700789 |
SI |
NM_001041.4:c.5247+1G>T |
|
1 |
0.000419% |
