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: rs121908125
rs121908125
CTNS ; LOC105371492
3 0.882 0.160 17 3655304 stop gained G/A;C snv 8.0E-06 0.020 1.000 2 2002 2019
dbSNP: rs1212133760
rs1212133760
CTNS ; LOC105371492
1 1.000 0.080 17 3659898 missense variant G/A snv 4.0E-06 0.700 1.000 9 1998 2012
dbSNP: rs121908129
rs121908129
CTNS ; LOC105371492
2 0.925 0.080 17 3655101 missense variant G/T snv 0.700 1.000 9 1998 2012
dbSNP: rs1555563446
rs1555563446
CTNS ; LOC105371492
1 1.000 0.080 17 3656543 missense variant A/G snv 0.700 1.000 9 1998 2012
dbSNP: rs757535731
rs757535731
CTNS
1 1.000 0.080 17 3660301 missense variant G/A snv 1.2E-05 0.700 1.000 9 1998 2012
dbSNP: rs764168489
rs764168489
CTNS ; LOC105371492
2 0.925 0.080 17 3656569 missense variant T/C snv 4.0E-06 0.700 1.000 9 1998 2012
dbSNP: rs886040970
rs886040970
CTNS ; LOC105371492
2 0.925 0.080 17 3655288 missense variant A/T snv 0.700 1.000 9 1998 2012
dbSNP: rs375952052
rs375952052
CTNS
3 0.882 0.160 17 3660224 intron variant G/A;C snv 2.0E-05; 4.0E-06 0.700 1.000 5 1998 2015
dbSNP: rs745365232
rs745365232
CTNS ; LOC105371492
1 1.000 0.080 17 3656543 stop gained CA/- delins 1.2E-05 0.700 1.000 4 1998 2016
dbSNP: rs778414542
rs778414542
CTNS ; LOC105371492
1 1.000 0.080 17 3656795 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2002 2013
dbSNP: rs893207601
rs893207601
CTNS ; LOC105371492
3 0.882 0.160 17 3656759 frameshift variant -/A;AA delins 8.0E-06 0.700 1.000 4 1998 2017
dbSNP: rs113994207
rs113994207
CTNS ; LOC105371492
4 0.851 0.160 17 3656703 missense variant G/A snv 5.6E-05 4.2E-05 0.700 1.000 3 2000 2015
dbSNP: rs1436441738
rs1436441738
CTNS ; LOC105371492
3 0.882 0.160 17 3655313 missense variant C/T snv 4.0E-06 0.700 1.000 3 2004 2015
dbSNP: rs113994211
rs113994211
CTNS ; LOC105371492
4 0.851 0.160 17 3656573 splice donor variant AAGGTACGGCCTTGCCTGCCCTACATC/- delins 0.700 1.000 2 1998 2016
dbSNP: rs759623796
rs759623796
CTNS ; LOC105371492
4 0.851 0.160 17 3658082 frameshift variant GGGAGTGACCACGTGGCTGCAGT/- delins 2.8E-05 0.700 1.000 2 1999 2015
dbSNP: rs786204501
rs786204501
CTNS ; LOC105371493
4 0.851 0.160 17 3640222 frameshift variant GACT/- delins 4.9E-05 0.700 1.000 2 1998 2016
dbSNP: rs917630768
rs917630768
CTNS ; LOC105371492
1 1.000 0.080 17 3659895 stop gained G/A snv 0.700 1.000 2 2003 2017
dbSNP: rs1475322504
rs1475322504
CTNS ; LOC105371492
2 0.925 0.080 17 3659856 splice acceptor variant A/G snv 4.0E-06 0.700 1.000 1 2002 2002
dbSNP: rs1555558099
rs1555558099
CTNS ; LOC105371493
1 1.000 0.080 17 3640243 frameshift variant C/- delins 0.700 1.000 1 2008 2008
dbSNP: rs1555561049
rs1555561049
CTNS ; LOC105371493
1 1.000 0.080 17 3648932 splice donor variant G/A snv 0.700 1.000 1 2002 2002
dbSNP: rs1555562830
rs1555562830
CTNS ; LOC105371492
1 1.000 0.080 17 3655090 frameshift variant ATCA/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1555563982
rs1555563982
CTNS ; LOC105371492
1 1.000 0.080 17 3658015 frameshift variant -/CG delins 0.700 1.000 1 1998 1998
dbSNP: rs1555564051
rs1555564051
CTNS ; LOC105371492
3 0.882 0.160 17 3658074 frameshift variant ACCA/CG delins 0.700 1.000 1 2008 2008
dbSNP: rs1555564588
rs1555564588
CTNS ; LOC105371492
1 1.000 0.080 17 3659857 splice acceptor variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs752919200
rs752919200
CTNS ; LOC105371492
1 1.000 0.080 17 3658151 frameshift variant -/A delins 4.0E-06 0.700 1.000 1 2014 2014