Table 7.
Synonymous and splice region HEXB variants found in the 1000 Genomes dataset.
Variant | Global MAFa | Highest frequency population | Consequence |
---|---|---|---|
c.276C>T | 0.00137 | YRI | Synonymous |
c.978G>C | 0.00046 | GBR | Synonymous |
c.1035A>C | 0.00046 | JPT | Synonymous |
c.1051T>C | 0.00733 | IBS | Synonymous |
c.1251G>A | 0.00046 | YRI | Synonymous |
c.772-4A>G | 0.04991 | IBS | Splice region variant |
Global MAF: Global minor allele frequency.