Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1565050320
CSRP3
11 19185040 missense variant C/G snv 1
rs1565053085
CSRP3
11 19192353 synonymous variant C/T snv 1
rs1565053147
CSRP3
11 19192403 missense variant T/A snv 1
rs876657767
CSRP3
11 19186276 missense variant C/G;T snv 1
rs535039125
CYP2B6
0.851 0.040 19 41004380 missense variant C/T snv 1.1E-04 1.3E-04 5
rs121913002
DES
0.851 0.160 2 219425727 missense variant C/A;G;T snv 6.5E-05; 5.6E-04 7
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv 6
rs397516695
DES
0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 4
rs62636495
DES
0.925 0.200 2 219418500 missense variant C/A;T snv 4
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 3
rs1368507241
DES
1.000 0.040 2 219420613 missense variant C/T snv 7.0E-06 2
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv 2
rs267607495
DES
2 219418497 missense variant C/T snv 2
rs727504448
DES
2 219420116 frameshift variant G/- del 7.0E-06 2
rs3130000
DHX16
1.000 0.080 6 30660305 non coding transcript exon variant A/G;T snv 2
rs1557315928
DMD
X 32380517 stop gained C/T snv 4
rs727504327
DNASE1L1 ; TAZ
1.000 0.120 X 154413544 missense variant G/A snv 2
rs200484060
DSG2
1.000 18 31536370 missense variant T/G snv 5.6E-05 1.4E-05 4
rs758537946
DSG2
18 31531044 missense variant G/A snv 8.0E-06 1.4E-05 1
rs397516706
DSG2-AS1 ; DSG2
0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins 4
rs397516955
DSP
0.790 0.120 6 7562753 stop gained G/A snv 9
rs727504443
DSP
0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 5
rs1554108012
DSP
0.882 0.120 6 7579323 stop gained C/T snv 4
rs1554108152
DSP
0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins 4
rs1554108431
DSP
0.882 0.120 6 7581189 stop gained C/T snv 4