Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113994205
CTNS ; LOC105371492
0.827 0.160 17 3655305 stop gained G/A snv 4.8E-05 9.8E-05 5
rs113994207
CTNS ; LOC105371492
0.851 0.160 17 3656703 missense variant G/A snv 5.6E-05 4.2E-05 4
rs746307931
CTNS ; LOC105371492
0.851 0.160 17 3659927 missense variant G/A snv 4.0E-06 7.0E-06 4
rs759623796
CTNS ; LOC105371492
0.851 0.160 17 3658082 frameshift variant GGGAGTGACCACGTGGCTGCAGT/- delins 2.8E-05 4
rs113994211
LOC105371492 ; CTNS
0.851 0.160 17 3656573 splice donor variant AAGGTACGGCCTTGCCTGCCCTACATC/- delins 4
rs786204501
LOC105371493 ; CTNS
0.851 0.160 17 3640222 frameshift variant GACT/- delins 4.9E-05 4
rs267606754
CTNS ; LOC105371492
0.882 0.160 17 3655307 missense variant C/T snv 8.0E-06 7.0E-06 3
rs121908125
LOC105371492 ; CTNS
0.882 0.160 17 3655304 stop gained G/A;C snv 8.0E-06 3
rs1475322504
CTNS ; LOC105371492
0.925 0.080 17 3659856 splice acceptor variant A/G snv 4.0E-06 2
rs550254092
CTNS ; LOC105371492
0.925 0.080 17 3655273 stop gained C/G;T snv 4.0E-06 2
rs764168489
CTNS ; LOC105371492
0.925 0.080 17 3656569 missense variant T/C snv 4.0E-06 2
rs886040970
CTNS ; LOC105371492
0.925 0.080 17 3655288 missense variant A/T snv 2
rs113994204
CTNS ; LOC105371493
0.925 0.080 17 3648904 inframe deletion TATTACTATCCTTGAGCTCCC/- del 2.0E-05 2.1E-05 2
rs113994210
LOC105371492 ; CTNS
0.925 0.080 17 3659855 splice region variant C/G;T snv 4.0E-06 2
rs113994208
CTNS ; LOC105371492
1.000 0.080 17 3656727 missense variant G/A snv 8.0E-06 1.4E-05 1
rs113994209
CTNS ; LOC105371492
1.000 0.080 17 3658018 frameshift variant -/C delins 1
rs1567709909
CTNS ; LOC105371492
1.000 0.080 17 3655313 frameshift variant C/- delins 1
rs776842972
CTNS ; LOC105371492
1.000 0.080 17 3659875 stop gained C/G;T snv 3.2E-05 2.1E-05 1
rs786204420
CTNS ; LOC105371492
1.000 0.080 17 3659926 frameshift variant -/G delins 1
rs786204632
CTNS ; LOC105371492
1.000 0.080 17 3658130 inframe deletion CCT/- delins 1
rs113994206
LOC105371492 ; CTNS
1.000 0.080 17 3656498 missense variant T/C snv 4.0E-05 3.9E-05 1
rs760256854
LOC105371492 ; CTNS
1.000 0.080 17 3656725 inframe deletion ACG/- delins 7.0E-06 1
rs786204434
LOC105371492 ; CTNS
1.000 0.080 17 3655063 frameshift variant -/A delins 1
rs786204667
LOC105371492 ; CTNS
1.000 0.080 17 3656586 splice donor variant G/- delins 1
rs1226342324
LOC105371493 ; CTNS
1.000 0.080 17 3640222 frameshift variant GACT/- delins 1