Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs763089013
rs763089013
CTNS ; LOC105371492
1 1.000 0.080 17 3658057 stop gained G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs879255615
rs879255615
CTNS ; LOC105371492
1 1.000 0.080 17 3655095 frameshift variant A/- del 0.700 1.000 1 2018 2018
dbSNP: rs1057516296
rs1057516296
CTNS ; LOC105371492
1 1.000 0.080 17 3655021 frameshift variant A/- delins 0.700 0
dbSNP: rs1057516723
rs1057516723
CTNS ; LOC105371492
1 1.000 0.080 17 3656797 splice donor variant T/C snv 0.700 0
dbSNP: rs1057516771
rs1057516771
CTNS ; LOC105371492
1 1.000 0.080 17 3658004 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1057517330
rs1057517330
CTNS
1 1.000 0.080 17 3660367 stop lost T/C snv 0.700 0
dbSNP: rs113994204
rs113994204
CTNS ; LOC105371493
2 0.925 0.080 17 3648904 inframe deletion TATTACTATCCTTGAGCTCCC/- del 2.0E-05 2.1E-05 0.700 0
dbSNP: rs121908124
rs121908124
CTNS ; LOC105371492
1 1.000 0.080 17 3655055 stop gained G/T snv 0.700 0
dbSNP: rs1327959008
rs1327959008
CTNS ; LOC105371492
1 1.000 0.080 17 3656779 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1555558034
rs1555558034
CTNS ; LOC105371493
1 1.000 0.080 17 3640187 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1555558078
rs1555558078
CTNS ; LOC105371493
1 1.000 0.080 17 3640226 frameshift variant C/- del 0.700 0
dbSNP: rs1555558116
rs1555558116
CTNS ; LOC105371493
1 1.000 0.080 17 3640268 splice donor variant G/A snv 0.700 0
dbSNP: rs1555560637
rs1555560637
CTNS ; LOC105371493
1 1.000 0.080 17 3647442 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555563521
rs1555563521
CTNS ; LOC105371492
1 1.000 0.080 17 3656674 splice acceptor variant AG/- del 0.700 0
dbSNP: rs1555563568
rs1555563568
CTNS ; LOC105371492
1 1.000 0.080 17 3656706 frameshift variant G/- del 0.700 0
dbSNP: rs1555563658
rs1555563658
CTNS ; LOC105371492
1 1.000 0.080 17 3656795 splice donor variant G/- delins 0.700 0
dbSNP: rs1555564600
rs1555564600
CTNS ; LOC105371492
1 1.000 0.080 17 3659873 stop gained -/A delins 0.700 0
dbSNP: rs1555564823
rs1555564823
CTNS
1 1.000 0.080 17 3660234 splice acceptor variant -/G delins 0.700 0
dbSNP: rs1567695026
rs1567695026
CTNS ; LOC105371493
1 1.000 0.080 17 3640264 stop gained TG/- delins 0.700 0
dbSNP: rs1567713938
rs1567713938
CTNS ; LOC105371492
1 1.000 0.080 17 3658090 frameshift variant -/A delins 0.700 0
dbSNP: rs550254092
rs550254092
CTNS ; LOC105371492
2 0.925 0.080 17 3655273 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs879758262
rs879758262
CTNS ; LOC105371493
3 0.882 0.160 17 3648912 frameshift variant TCCTT/- del 0.700 0
dbSNP: rs908965524
rs908965524
CTNS ; LOC105371492
1 1.000 0.080 17 3659928 missense variant G/T snv 0.700 0
dbSNP: rs922106812
rs922106812
CTNS ; LOC105371492
1 1.000 0.080 17 3659866 missense variant G/C snv 0.700 0
dbSNP: rs955833453
rs955833453
CTNS ; LOC105371492
1 1.000 0.080 17 3655103 splice donor variant T/C snv 4.0E-06 0.700 0