Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs10871700 18 72302261 intergenic variant A/G snv 0.72 1
rs10872257 6 122969896 intergenic variant C/T snv 0.44 1
rs11780883 8 83834281 intergenic variant G/A;T snv 0.43 1
rs28447350 13 64923076 intergenic variant G/A snv 1
rs414056 18 3460752 downstream gene variant T/C;G snv 1.7E-02 1
rs867317000
AMPD2
1 109628710 missense variant G/A snv 7.0E-06 1
rs1057518855
ANO5
11 22270443 splice donor variant -/T delins 1
rs9806699
C15orf48 ; LOC105376714
15 45448194 intron variant G/A snv 0.31 1
rs72546667
CAV3 ; SSUH2
3 8745577 missense variant G/A snv 8.9E-03 3.5E-02 1
rs73089338
CDCP1
3 45114350 intron variant T/C snv 5.5E-02 1
rs797045477
COL6A1
21 45990771 splice acceptor variant A/G snv 1
rs139552940
COL6A2
21 46131981 missense variant G/A snv 5.9E-05 4.2E-05 1
rs774521989
COL6A2
21 46132125 missense variant C/T snv 1.6E-05 4.9E-05 1
rs797045478
COL6A2
21 46116045 missense variant G/A snv 1
rs797045479
COL6A3
2 237361150 stop gained G/A snv 1
rs4693075
COQ2
4 83271015 intron variant G/A;C;T snv 1
rs199476140
COX1 ; ND2 ; TRNQ ; ND1
MT 4365 non coding transcript exon variant -/A delins 1
rs199474699
CYTB ; ND6 ; TRNP
MT 15990 non coding transcript exon variant C/T snv 1
rs1231213195
DES
2 219418473 missense variant C/G snv 4.5E-06 1
rs1243057653
DES
2 219419031 missense variant T/C snv 1
rs1057518866
DMD
X 32343174 stop gained A/C snv 1
rs757592525
DMD
X 31478270 missense variant A/G snv 5.5E-06 1
rs140854723
EVC2
4 5634585 intron variant G/A;T snv 1
rs1337512
EYS
6 64483927 intron variant T/G snv 0.31 1
rs3857532
EYS
6 64523772 intron variant G/A snv 0.42 1