Gene VWF 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: VWF
Disorder: von Willebrand disease
Allele Frequency: 0.00376884
Carrier Rate: 0.00750928
Max At-Risk Couples rate: 0.0000564
The table below lists all clinically relevant variants identified in the VWF gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 66 |
6127833 |
VWF |
NM_000552.5:c.4751A>G |
p.Tyr1584Cys |
5 |
0.002094% |
| 190 |
6128449 |
VWF |
NM_000552.5:c.4135C>T |
p.Arg1379Cys |
2 |
0.000838% |
| 422 |
6132796 |
VWF |
NM_000552.5:c.3379+1G>A |
|
1 |
0.000419% |
| 423 |
6145554 |
VWF |
NM_000552.5:c.2546G>T |
p.Cys849Phe |
1 |
0.000419% |
