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Table 1 The observed allele frequency (AF) and heterozygous frequency (HF) compared to the non-Finnish Europeans from the gnomAD database

From: Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders

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
  1. Frequency ratio for each variant was calculated using the ratio of frequencies from the sample group and gnomAD Non-Finnish Europeans. Fisher’s one-tailed exact test adjusted using Bonferroni correction
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BMC Medical Genomics

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