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: rs10106540
rs10106540
1 8 133449608 TF binding site variant A/G snv 0.38 0.800 1.000 1 2013 2013
dbSNP: rs10479334
rs10479334
1 5 105618627 intergenic variant C/T snv 0.93 0.800 1.000 1 2011 2011
dbSNP: rs13080594
rs13080594
1 3 7361959 intron variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs17190927
rs17190927
1 20 13143086 intron variant T/C;G snv 0.11 0.800 1.000 1 2011 2011
dbSNP: rs2146180
rs2146180
1 9 8045606 regulatory region variant G/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs285480
rs285480
1 1 165434666 intron variant G/A snv 0.72 0.800 1.000 1 2011 2011
dbSNP: rs411174
rs411174
ITK
1 5 157181989 intron variant G/A snv 0.34 0.800 1.000 1 2011 2011
dbSNP: rs644148
rs644148
1 19 44466713 upstream gene variant G/T snv 0.30 0.800 1.000 1 2010 2010
dbSNP: rs9419788
rs9419788
1 10 94253948 intron variant G/A snv 0.67 0.800 1.000 1 2011 2011
dbSNP: rs9846232
rs9846232
1 3 13701633 intron variant G/T snv 5.1E-02 0.800 1.000 1 2011 2011
dbSNP: rs10410977
rs10410977
1 19 10332578 intron variant C/A snv 3.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs10428174
rs10428174
1 3 59828322 intron variant G/A snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs1079196
rs1079196
1 3 59821052 intron variant G/A snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs10853545
rs10853545
1 18 46895257 intron variant A/T snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs10932966
rs10932966
1 2 222667020 upstream gene variant C/A snv 0.79 0.700 1.000 1 2012 2012
dbSNP: rs11072511
rs11072511
1 15 74867092 intron variant A/G snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs1127796
rs1127796
1 15 74900663 3 prime UTR variant T/C snv 0.38 0.700 1.000 1 2012 2012
dbSNP: rs1130741
rs1130741
MPI
1 15 74897589 synonymous variant A/G snv 0.44 0.45 0.700 1.000 1 2012 2012
dbSNP: rs11630918
rs11630918
1 15 74863555 intron variant C/T snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs12614577
rs12614577
1 2 222554810 intron variant G/C snv 0.69 0.700 1.000 1 2012 2012
dbSNP: rs1394936
rs1394936
1 9 78599117 intergenic variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1394937
rs1394937
1 9 78587551 upstream gene variant G/C snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs1477268
rs1477268
1 5 87132049 intron variant T/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs1505634
rs1505634
1 9 78594735 intergenic variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1505635
rs1505635
1 9 78591878 downstream gene variant A/C;T snv 0.700 1.000 1 2012 2012