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
rs375952052
CTNS
0.882 0.160 17 3660224 intron variant G/A;C snv 2.0E-05; 4.0E-06 3
rs121908125
LOC105371492 ; CTNS
0.882 0.160 17 3655304 stop gained G/A;C snv 8.0E-06 3
rs1436441738
LOC105371492 ; CTNS
0.882 0.160 17 3655313 missense variant C/T snv 4.0E-06 3
rs1555564051
LOC105371492 ; CTNS
0.882 0.160 17 3658074 frameshift variant ACCA/CG delins 3
rs893207601
LOC105371492 ; CTNS
0.882 0.160 17 3656759 frameshift variant -/A;AA delins 8.0E-06 3
rs879758262
LOC105371493 ; CTNS
0.882 0.160 17 3648912 frameshift variant TCCTT/- del 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
rs121908129
LOC105371492 ; CTNS
0.925 0.080 17 3655101 missense variant G/T snv 2
rs1057517330
CTNS
1.000 0.080 17 3660367 stop lost T/C snv 1
rs121908127
CTNS
1.000 0.080 17 3660280 missense variant G/A snv 3.2E-05 3.5E-05 1
rs1555564823
CTNS
1.000 0.080 17 3660234 splice acceptor variant -/G delins 1
rs757535731
CTNS
1.000 0.080 17 3660301 missense variant G/A snv 1.2E-05 1
rs1057516723
CTNS ; LOC105371492
1.000 0.080 17 3656797 splice donor variant T/C snv 1
rs1057516771
CTNS ; LOC105371492
1.000 0.080 17 3658004 splice acceptor variant G/A snv 1
rs1555563521
CTNS ; LOC105371492
1.000 0.080 17 3656674 splice acceptor variant AG/- del 1