TABLE 2.
rs116998555 c.511C > T (p.Arg171Cys) |
rs147680216 c.637G > A (p.Gly213Ser) |
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Database | Allele count | Allele number | Number of homozygotes | Allele frequency | Allele count | Allele number | Number of homozygotes | Allele frequency |
gnomAD (v2.1.1 and v3) | ||||||||
East Asian | 370 | 23084 | 3 | 0.016 | 657 | 22960 | 16 | 0.029 |
Non-East Asian | 335 | 402864 | 1 | 0.001 | 22 | 400838 | 0 | 0.000 |
South Asian | 51 | 33652 | 1 | 0.002 | 4 | 33616 | 0 | 0.000 |
African | 32 | 67004 | 0 | 0.001 | 3 | 66550 | 0 | 0.000 |
Ashkenazi Jewish | 0 | 13692 | 0 | 0.000 | 0 | 13646 | 0 | 0.000 |
European (Finnish) | 13 | 35558 | 0 | 0.000 | 0 | 35046 | 0 | 0.000 |
European (non-Finnish) | 223 | 193594 | 0 | 0.001 | 4 | 192768 | 0 | 0.000 |
Latino | 6 | 49094 | 0 | 0.000 | 3 | 48994 | 0 | 0.000 |
Other | 10 | 10270 | 0 | 0.001 | 8 | 10218 | 0 | 0.001 |
Total | 705 | 425948 | 4 | 0.002 | 679 | 423798 | 16 | 0.002 |
GenomeAsia 100K | ||||||||
Southeast Asia | 4 | 692 | 0 | 0.006 | 3 | 692 | 0 | 0.004 |
Northeast Asia | 5 | 702 | 0 | 0.007 | 10 | 702 | 0 | 0.014 |
South Asia | 7 | 1448 | 0 | 0.005 | 0 | 1448 | 0 | 0.000 |
Other | 0 | 636 | 0 | 0.000 | 0 | 636 | 0 | 0.000 |
Total | 16 | 3478 | 0 | 0.005 | 13 | 3478 | 0 | 0.004 |
Northeast Asian Reference Database (NARD) | 35 | 3558 | NA | 0.010 | 51 | 3558 | NA | 0.014 |
Han Chinese genome project (PGG.Han) | 3596 | 107232 | NA | 0.033 | 1161 | 108146 | NA | 0.011 |
4.7K JPN (4,773 Japanese individuals) | NA | NA | NA | 0.010 | NA | NA | NA | 0.015 |
HGVD (3,248 Japanese individuals) | 36 | 2412 | 0 | 0.015 | 35 | 2388 | 0 | 0.015 |
Korean Variant Archive (KOVA) (1,055 healthy Korean individuals) | NA | NA | NA | 0.019 | NA | NA | NA | 0.019 |
ThWES 1876 (In-house database of 1,876 Thai individuals) | 58 | 3752 | 4 | 0.016 | 59 | 3752 | 0 | 0.016 |
JPN, Japanese individual genome variation; genomAD, Genome Aggregation Database; HGVD, Human Genetic Variation Database; NA, not available. Bold numbers indicate maximum and minimum allele frequencies in the column.