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
|
- 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