Table 1.
gnomAD allele frequencies | MANBA c.2158-2A>G | GJB2 c.71G>A, p.W24* | MARVELD2 c.1331+2T>C |
---|---|---|---|
rs772852668 | rs104894396 | rs772048719 | |
all | 0.0024% | 0.052% | 0.0040% |
South Asian population | 0% | 0.44% | 0.020% |
genotypes - het: wt | 0: 15303 | 134: 15174 | 6: 15302 |
European Non-Finish population | 0.0018% | 0.0063% | 0.0026% |
genotypes - hom:het:wt | 0: 2: 56692 | 1: 6: 63872 | 0: 3: 56781 |
Latino population | 0.012% | 0.0028% | 0% |
Allele frequencies detected in this report | |||
CZ genotypes - het: wt | 1.89% 5: 127 (3.79%) | Not tested | Not tested |
SK genotypes - het: wt | 1.88% 8: 205 (3.76%) | Not tested | Not tested |
Legend – gnomAD [39] allele frequencies and genotypes for prevalent Roma variants in MANBA, GJB2 and MARVELD2 are shown. All populations, in which the frequency was detected, are shown except for the c.71G>A (p.W24*) where one more frequency is listed (OTH - other populations, 4 heterozygotes were detected). The frequency and numbers of individual genotypes are listed for the complex overview
CZ - Czech Roma population, SK - Slovak Roma population, Het - heterozygous for pathogenic allele, hom - homozygous for pathogenic allele, wt - wildtype, both alleles are reference alleles, frequencies are in bold