Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs3740066
ABCC2
0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 20
rs211037
GABRG2
0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 14
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs786204929
PTEN
0.752 0.200 10 87933144 stop gained G/A;T snv 12
rs61738009
CPA6 ; LOC102724708
0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 11
rs863223953
YARS2 ; DNM1L
0.776 0.240 12 32731362 missense variant C/T snv 10
rs35993949
CPA6
0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03 9
rs878329 0.882 0.120 17 5649930 intergenic variant G/C snv 0.44 4
rs119488099
LGI1 ; LOC105378437
0.925 0.120 10 93777592 missense variant C/T snv 1.4E-05 3
rs535860
BACE1-AS ; BACE1
1.000 0.080 11 117289162 3 prime UTR variant A/T snv 0.12 2