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: rs1553197239
rs1553197239
CTSK
1 1.000 0.120 1 150804062 frameshift variant GG/C delins 0.700 0
dbSNP: rs1553197262
rs1553197262
CTSK
1 1.000 0.120 1 150804240 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1557823855
rs1557823855
CTSK
1 1.000 0.120 1 150796899 splice acceptor variant C/A snv 0.700 0
dbSNP: rs74315301
rs74315301
CTSK
1 1.000 0.120 1 150796799 stop lost T/C snv 0.700 0
dbSNP: rs74315306
rs74315306
CTSK
1 1.000 0.120 1 150806191 stop gained T/A snv 0.700 0
dbSNP: rs75481239
rs75481239
CTSK
1 1.000 0.120 1 150804019 splice donor variant A/C;T snv 0.700 0
dbSNP: rs758450569
rs758450569
CTSK
1 1.000 0.120 1 150799648 frameshift variant -/TT delins 4.0E-06 0.700 0
dbSNP: rs773943327
rs773943327
CTSK
1 1.000 0.120 1 150805970 frameshift variant AG/- del 0.700 0
dbSNP: rs780202604
rs780202604
CTSK
1 1.000 0.120 1 150806132 stop gained A/T snv 4.0E-06 0.700 0
dbSNP: rs781168584
rs781168584
CTSK
1 1.000 0.120 1 150804061 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1202737189
rs1202737189
CTSK
1 1.000 0.120 1 150799693 missense variant T/C snv 7.0E-06 0.010 1.000 1 2002 2002