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: rs74315305
rs74315305
CTSK
1 1.000 0.120 1 150806109 missense variant C/T snv 0.800 1.000 6 1996 2015
dbSNP: rs375958814
rs375958814
CTSK
1 1.000 0.120 1 150796855 stop gained G/A;C;T snv 1.2E-05; 4.0E-06; 4.0E-06 0.700 1.000 4 1999 2014
dbSNP: rs1057517252
rs1057517252
CTSK
1 1.000 0.120 1 150806780 missense variant A/G snv 0.700 1.000 2 1999 2000
dbSNP: rs202040269
rs202040269
CTSK
1 1.000 0.120 1 150804071 stop gained G/A snv 4.0E-06 0.700 1.000 1 1999 1999
dbSNP: rs29001685
rs29001685
CTSK
1 1.000 0.120 1 150796863 missense variant A/G snv 4.0E-06 7.0E-06 0.800 1.000 2 2000 2011
dbSNP: rs1057516514
rs1057516514
CTSK
1 1.000 0.120 1 150804213 frameshift variant A/- delins 0.700 1.000 1 2000 2000
dbSNP: rs1553196900
rs1553196900
CTSK
1 1.000 0.120 1 150799182 stop gained C/T snv 0.700 1.000 1 2001 2001
dbSNP: rs1553196906
rs1553196906
CTSK
1 1.000 0.120 1 150799232 frameshift variant G/- delins 0.700 1.000 1 2001 2001
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
dbSNP: rs371277428
rs371277428
CTSK
1 1.000 0.120 1 150806209 missense variant G/A snv 3.2E-05 7.0E-06 0.700 1.000 3 2007 2016
dbSNP: rs778368118
rs778368118
CTSK
1 1.000 0.120 1 150806803 start lost C/A;T snv 4.0E-06 0.700 1.000 1 2014 2014