Table 1 The observed allele frequency (AF) and heterozygous frequency (HF) compared to the non-Finnish Europeans from the gnomAD database
Genes | Variants | AF Acadian sample | AF gnomAD NFE | AF ratio (Acadian/NFE) | HF Acadian Sample | HF gnomAD NFE | HF Ratio (Acadian/NFE) | Adj. p values |
|---|---|---|---|---|---|---|---|---|
ABCC8 | c.2252_2253dup | 0.00833 | NA | NA | 0.01667 | NA | NA | NA |
ACADM | c.199T > C | 0.00833 | 0.00102 | 8.2 | 0.01667 | 0.00203 | 8.2 | 1.000 |
ACADM | c.250C > T | 0.00833 | 0.00012 | 67.2 | 0.01667 | 0.00025 | 67.2 | 0.486 |
AGL | c.18_19del | 0.00833 | 0.00009 | 89.7 | 0.01667 | 0.00019 | 89.7 | 0.372 |
AIRE | c.967_979del | 0.03333 | 0.00096 | 34.6 | 0.06667 | 0.00193 | 34.6 | < 0.001 |
BBS1 | c.1169T > G | 0.00833 | 0.00277 | 3.0 | 0.01667 | 0.00555 | 3.0 | 1.000 |
BCHE | c.293A > G | 0.07500 | 0.01766 | 4.2 | 0.15000 | 0.03439 | 4.4 | 0.009 |
CDH23 | c.5371G > T | 0.00833 | NA | NA | 0.01667 | NA | NA | NA |
CERKL | c.847C > T | 0.00833 | 0.00054 | 15.5 | 0.01667 | 0.00108 | 15.5 | 1.000 |
CYP21A2 | c.293-13C > T | 0.00833 | NA | NA | 0.01667 | NA | NA | NA |
CYP27B1 | c.262del | 0.00833 | 0.00009 | 97.3 | 0.01667 | 0.00017 | 97.3 | 0.369 |
CYP27B1 | c.1319_1325dup | 0.00833 | 0.00017 | 48.8 | 0.01667 | 0.00034 | 48.7 | 0.658 |
DHCR7 | c.964NA1G > C | 0.00833 | 0.00608 | 1.4 | 0.01667 | 0.01216 | 1.4 | 1.000 |
DPYD | c.1905 + 1G > A | 0.00833 | 0.00566 | 1.5 | 0.01667 | 0.01130 | 1.5 | 1.000 |
DPYD | c.2846A > T | 0.02500 | 0.00516 | 4.8 | 0.05000 | 0.01029 | 4.9 | 0.771 |
ETFDH | c.51dup | 0.01667 | 0.00014 | 119.3 | 0.03333 | 0.00028 | 119.3 | 0.005 |
FANCG | c.1480 + 1G > C | 0.00833 | 0.00004 | 189.6 | 0.01667 | 0.00009 | 189.6 | 0.195 |
FMR1 | 47 CGG repeats | 0.01667 | NA | NA | 0.03333 | NA | NA | NA |
GJB2 | c.35del | 0.00833 | 0.00958 | 0.9 | 0.01667 | 0.01903 | 0.9 | 1.000 |
LAMB3 | c.2842del | 0.00833 | 0.00004 | 215.2 | 0.01667 | 0.00008 | 215.2 | 0.172 |
MMACHC | c.331C > T | 0.00833 | 0.00009 | 89.3 | 0.01667 | 0.00019 | 89.3 | 0.374 |
MPL | c.305G > C | 0.00833 | 0.00071 | 11.7 | 0.01667 | 0.00142 | 11.7 | 1.000 |
MTHFR | c.665C > T | 0.08333 | 0.33800 | 0.2 | 0.10000 | 0.44324 | 0.2 | 1.000 |
MTHFR | c.1286A > C | 0.01667 | 0.31730 | 0.1 | 0.03333 | 0.42937 | 0.1 | 1.000 |
NPHS2 | c.686G > A | 0.05000 | 0.03099 | 1.6 | 0.06667 | 0.06938 | 1.0 | 1.000 |
PYGM | c.148C > T | 0.00833 | 0.00252 | 3.3 | 0.01667 | 0.00503 | 3.3 | 1.000 |
RAPSN | c.133G > A | 0.01667 | 0.00007 | 238.9 | 0.03333 | 0.00014 | 238.9 | 0.001 |
SERPINA1 | c.863A > T | 0.09167 | 0.03668 | 2.5 | 0.18333 | 0.06973 | 2.6 | 0.149 |
SLC12A3 | c.248G > A | 0.00833 | 0.00003 | 268.4 | 0.01667 | 0.00006 | 268.4 | 0.144 |
SLC17A5 | c.533del | 0.00833 | 0.00010 | 82.8 | 0.01667 | 0.00020 | 82.7 | 0.401 |
SLC17A5 | c.819 + 1G > A | 0.01667 | 0.00001 | 1884.1 | 0.03333 | 0.00002 | 1884.0 | < 0.001 |
SLC17A5 | c.918T > G | 0.02500 | 0.00004 | 645.7 | 0.05000 | 0.00008 | 645.6 | < 0.001 |
SMN1 | Absence of SMN1 | 0.00833 | NA | NA | 0.01667 | NA | NA | NA |
USH2A | c.2276G > T | 0.00833 | 0.00142 | 5.9 | 0.01667 | 0.00283 | 5.9 | 1.000 |
USH2A | c.4338_4339del | 0.00833 | 0.00001 | 944.2 | 0.01667 | 0.00002 | 944.2 | 0.066 |
VPS13B | c.6002del | 0.00833 | 0.00002 | 358.4 | 0.01667 | 0.00005 | 358.4 | 0.115 |