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: rs74315443
rs74315443
CSTB
1 1.000 0.080 21 43776260 missense variant C/A;G snv 8.0E-06 0.810 1.000 1 1997 1997
dbSNP: rs74315442
rs74315442
CSTB
10 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.710 1.000 11 1996 2016
dbSNP: rs386833443
rs386833443
CSTB
1 1.000 0.080 21 43776204 splice region variant C/T snv 0.710 1.000 1 2018 2018
dbSNP: rs147484110
rs147484110
CSTB
11 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 0.700 1.000 4 1996 2012
dbSNP: rs386833440
rs386833440
CSTB
1 1.000 0.080 21 43774658 splice region variant C/T snv 0.700 1.000 1 2002 2002
dbSNP: rs121909346
rs121909346
CSTB
1 1.000 0.080 21 43774287 missense variant T/G snv 0.700 0
dbSNP: rs312262707
rs312262707
CSTB
1 1.000 0.080 21 43774639 splice donor variant GAGGCCCACACTCTACCT/- delins 0.700 0
dbSNP: rs312262708
rs312262708
CSTB
1 1.000 0.080 21 43774677 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs386833439
rs386833439
CSTB
1 1.000 0.080 21 43774701 stop gained G/T snv 7.0E-06 0.700 0
dbSNP: rs386833441
rs386833441
CSTB
1 1.000 0.080 21 43774332 splice acceptor variant T/C snv 0.700 0
dbSNP: rs545986367
rs545986367
CSTB
4 0.882 0.080 21 43774690 stop gained G/A snv 3.2E-05 7.0E-06 0.700 0
dbSNP: rs796943858
rs796943858
CSTB
4 0.882 0.080 21 43774280 frameshift variant GA/- delins 2.0E-05 5.6E-05 0.700 0
dbSNP: rs864309482
rs864309482
CSTB
1 1.000 0.080 21 43774637 splice donor variant CTCCTGAGGCCCACACTCTA/TT delins 0.700 0
dbSNP: rs727502818
rs727502818
KCNC1
26 0.790 0.160 11 17772053 missense variant G/A snv 0.020 1.000 2 2015 2018
dbSNP: rs1335526524
rs1335526524
TBC1D24
1 1.000 0.080 16 2498249 missense variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs145873635
rs145873635
ASAH1
4 0.851 0.160 8 18075541 missense variant G/A snv 1.2E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs563449281
rs563449281
COL6A2
1 1.000 0.080 21 46112506 missense variant G/A;T snv 4.5E-05; 4.1E-06 0.010 1.000 1 2013 2013