Gene: CTNS ×
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: rs113994205
rs113994205
CTNS ; LOC105371492
5 0.827 0.160 17 3655305 stop gained G/A snv 4.8E-05 9.8E-05 0.700 1.000 4 1998 2002
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: rs746307931
rs746307931
CTNS ; LOC105371492
4 0.851 0.160 17 3659927 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 3 1998 2002
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: 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 2 1999 2015
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: rs1555564051
rs1555564051
CTNS ; LOC105371492
3 0.882 0.160 17 3658074 frameshift variant ACCA/CG delins 0.700 1.000 1 2008 2008
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: rs879758262
rs879758262
CTNS ; LOC105371493
3 0.882 0.160 17 3648912 frameshift variant TCCTT/- del 0.700 0