Table 3:
Estimated Carrier Rates and Prevalence of FSASD1
| General Population2 | Finnish Population (p.Arg39Cys)3 | |
|---|---|---|
| Pathogenic SLC17A5 variants/total alleles (q) | 494/282,862 | 149/25,114 |
| Pathogenic SLC17A5 variant allele frequency | 1/572 | 1/168 |
| Carrier rate (heterozygotes) | 1/286 | 1/84 |
| Predicted FSASD Prevalence | 1/327,865 | 1/28,409 |
| FSASD affected per million | ~ 3 | ~ 35 |
| Estimated number of FSASD cases | ~ 23,000 worldwide4 | ~ 190 in Finland |
1
Calculated with Hardy-Weinberg principle of population genetics (See Supp Table S1)
2
Based on pathogenic SLC17A5 variants in GnomAD database
3
Based on GnomAD data of p.Arg39Cys allele frequency on Finnish alleles
4
Embryonic lethality of severe FSASD cases and childhood death of intermediate severe cases will reduce the number of living FSASD cases