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: rs786204501
rs786204501
CTNS ; LOC105371493
4 0.851 0.160 17 3640222 frameshift variant GACT/- delins 4.9E-05 0.710 1.000 6 1998 2016
dbSNP: rs113994205
rs113994205
CTNS ; LOC105371492
5 0.827 0.160 17 3655305 stop gained G/A snv 4.8E-05 9.8E-05 0.710 1.000 1 1998 1998
dbSNP: rs113994204
rs113994204
CTNS ; LOC105371493
2 0.925 0.080 17 3648904 inframe deletion TATTACTATCCTTGAGCTCCC/- del 2.0E-05 2.1E-05 0.700 1.000 5 1998 2016
dbSNP: rs786204420
rs786204420
CTNS ; LOC105371492
1 1.000 0.080 17 3659926 frameshift variant -/G delins 0.700 1.000 5 1998 2016
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 4 1999 2001
dbSNP: rs113994208
rs113994208
CTNS ; LOC105371492
1 1.000 0.080 17 3656727 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 4 1998 2012
dbSNP: rs760256854
rs760256854
CTNS ; LOC105371492
1 1.000 0.080 17 3656725 inframe deletion ACG/- delins 7.0E-06 0.700 1.000 4 1998 2004
dbSNP: rs267606754
rs267606754
CTNS ; LOC105371492
3 0.882 0.160 17 3655307 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 3 1999 2009
dbSNP: rs550254092
rs550254092
CTNS ; LOC105371492
2 0.925 0.080 17 3655273 stop gained C/G;T snv 4.0E-06 0.700 1.000 3 1998 2013
dbSNP: rs786204541
rs786204541
CTNS ; LOC105371493
1 1.000 0.080 17 3648936 splice region variant GT/CC mnv 0.700 1.000 3 1999 2003
dbSNP: rs786204550
rs786204550
CTNS ; LOC105371493
1 1.000 0.080 17 3648905 inframe deletion ATTACTATCCTTGAGCTCCCC/- del 0.700 1.000 3 1998 2011
dbSNP: rs786204632
rs786204632
CTNS ; LOC105371492
1 1.000 0.080 17 3658130 inframe deletion CCT/- delins 0.700 1.000 3 1999 2014
dbSNP: rs113994211
rs113994211
CTNS ; LOC105371492
4 0.851 0.160 17 3656573 splice donor variant AAGGTACGGCCTTGCCTGCCCTACATC/- delins 0.700 1.000 2 1999 2001
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 2 2002 2003
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: rs786204667
rs786204667
CTNS ; LOC105371492
1 1.000 0.080 17 3656586 splice donor variant G/- delins 0.700 1.000 2 1998 1998
dbSNP: rs1567709909
rs1567709909
CTNS ; LOC105371492
1 1.000 0.080 17 3655313 frameshift variant C/- delins 0.700 1.000 1 1999 1999
dbSNP: rs776842972
rs776842972
CTNS ; LOC105371492
1 1.000 0.080 17 3659875 stop gained C/G;T snv 3.2E-05 2.1E-05 0.700 1.000 1 1998 1998
dbSNP: rs786204434
rs786204434
CTNS ; LOC105371492
1 1.000 0.080 17 3655063 frameshift variant -/A delins 0.700 1.000 1 2002 2002
dbSNP: rs113994206
rs113994206
CTNS ; LOC105371492
1 1.000 0.080 17 3656498 missense variant T/C snv 4.0E-05 3.9E-05 0.700 0
dbSNP: rs113994209
rs113994209
CTNS ; LOC105371492
1 1.000 0.080 17 3658018 frameshift variant -/C delins 0.700 0
dbSNP: rs113994210
rs113994210
CTNS ; LOC105371492
2 0.925 0.080 17 3659855 splice region variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs746307931
rs746307931
CTNS ; LOC105371492
4 0.851 0.160 17 3659927 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs764168489
rs764168489
CTNS ; LOC105371492
2 0.925 0.080 17 3656569 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs886040970
rs886040970
CTNS ; LOC105371492
2 0.925 0.080 17 3655288 missense variant A/T snv 0.700 0