Table 3 Cumulative allele count, allele frequency and expected homozgous frequency of pathogenic APRT variants observed in population genomic databases.
From: Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
Allele count (Alt/Ref) | Allele frequency (%) | Expected frequency of homozygotes (1 in) | Expected carrier frequency (1 in) | |
|---|---|---|---|---|
gnomAD | ||||
African | 9/24,940 | 0.0360 | 7,679,057 | 1386 |
Ashkenazi Jewish | 1/10,350 | 0.0097 | ||
East Asian | 9/19,946 | 0.0451 | 4,911,641 | 1109 |
European (Finnish) | 1/24,920 | 0.0080 | ||
European (Non-Finnish) | 63/128,828 | 0.0489 | 4,181,571 | 1023 |
Latino | 11/35,430 | 0.0508 | 3,712,044 | 964 |
South Asian | 5/30,614 | 0.0163 | 37,488,680 | 3062 |
UK Biobank | ||||
All | 77/1,000,000 | 0.071 | 1,686,625 | 650 |
100,000 Genomes Project | ||||
All | 11/127,474 | 0.0086 | 134,294,386 | 5795 |
deCODE | ||||
Iceland | 1304/107,928 | 1.2082 | 6840 | 42 |
Denmark | 12/17,662 | 0.0678 | 2,166,293 | 736 |
Sweden | 3/6306 | 0.0476 | 4,418,404 | 1052 |
Norway | 3/5840 | 0.0514 | 3,789,511 | 974 |
Ireland | 7/2730 | 0.18315 | 298,116 | 274 |
HGVD | 3/2326 | 0.1289 | 601,142 | 388 |
KOVA | 1/1898 | 0.052687 | 3,602,404 | 950 |
