Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11780883 8 83834281 intergenic variant G/A;T snv 0.43 1
rs1198364572
TTN ; TTN-AS1
2 178671132 frameshift variant -/T delins 1
rs1231213195
DES
2 219418473 missense variant C/G snv 4.5E-06 1
rs1243057653
DES
2 219419031 missense variant T/C snv 1
rs1279384333
GNE ; CLTA
9 36222876 missense variant C/T snv 1
rs1337512
EYS
6 64483927 intron variant T/G snv 0.31 1
rs1384689025
GNE ; CLTA
9 36217577 missense variant C/T snv 7.0E-06 1
rs139552940
COL6A2
21 46131981 missense variant G/A snv 5.9E-05 4.2E-05 1
rs140854723
EVC2
4 5634585 intron variant G/A;T snv 1
rs142586585
MYHAS ; MYH2
17 10529418 missense variant G/C snv 2.0E-03 2.2E-03 1
rs199474699
CYTB ; ND6 ; TRNP
MT 15990 non coding transcript exon variant C/T snv 1
rs199476140
COX1 ; ND2 ; TRNQ ; ND1
MT 4365 non coding transcript exon variant -/A delins 1
rs28447350 13 64923076 intergenic variant G/A snv 1
rs33428
ZNF536
19 30446936 intron variant A/G snv 0.71 1
rs370634440
RYR1
19 38463499 missense variant G/A;T snv 1.7E-04; 8.0E-06 1
rs3857532
EYS
6 64523772 intron variant G/A snv 0.42 1
rs414056 18 3460752 downstream gene variant T/C;G snv 1.7E-02 1
rs4693075
COQ2
4 83271015 intron variant G/A;C;T snv 1
rs61865606
LOC105378568
10 132440647 intron variant T/C;G snv 1
rs6925743
PPP1R14C
6 150170920 intron variant T/A snv 0.33 1
rs72546667
CAV3 ; SSUH2
3 8745577 missense variant G/A snv 8.9E-03 3.5E-02 1
rs72661137
SLCO1B1
12 21217249 missense variant T/G snv 8.0E-06 1
rs73089338
CDCP1
3 45114350 intron variant T/C snv 5.5E-02 1
rs746721983
TTN ; TTN-AS1
2 178706629 stop gained G/A snv 2.8E-05 2.1E-05 1
rs747828222
POLG
15 89333408 missense variant G/A;C;T snv 1.3E-05; 8.7E-06 1