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: rs1410727652
rs1410727652
2 1.000 0.080 6 160348669 missense variant C/T snv 7.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs782237788
rs782237788
2 1.000 0.080 10 46009499 missense variant T/C snv 4.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs10119760
rs10119760
1 1.000 0.080 9 97862320 intergenic variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1025689
rs1025689
1 1.000 0.080 3 53849695 synonymous variant C/A;G;T snv 8.0E-06; 0.56 0.010 1.000 1 2015 2015
dbSNP: rs1061758
rs1061758
1 1.000 0.080 9 34652333 intron variant A/G snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs11246050
rs11246050
2 1.000 0.080 11 284257 synonymous variant G/A;C snv 0.16; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs11466653
rs11466653
3 1.000 0.080 4 38774614 missense variant A/G snv 6.4E-02 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs11762469
rs11762469
2 1.000 0.080 7 140914412 intron variant A/G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1267636
rs1267636
1 1.000 0.080 7 140792239 intron variant T/C snv 0.11 0.010 < 0.001 1 2016 2016
dbSNP: rs1319984849
rs1319984849
1 1.000 0.080 17 42727721 frameshift variant G/- delins 0.010 1.000 1 2019 2019
dbSNP: rs1347591
rs1347591
2 1.000 0.080 16 56834788 intron variant A/G snv 0.47 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1394069156
rs1394069156
1 1.000 0.080 22 28703554 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs140451238
rs140451238
ITK
2 1.000 0.080 5 157208978 synonymous variant T/C snv 1.6E-04 7.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs144110687
rs144110687
1 1.000 0.080 22 21025856 synonymous variant C/G;T snv 4.3E-05 0.010 1.000 1 2009 2009
dbSNP: rs1466683466
rs1466683466
1 1.000 0.080 11 57348630 synonymous variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1467664274
rs1467664274
1 1.000 0.080 22 28695186 missense variant T/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1486830727
rs1486830727
1 1.000 0.080 4 147532671 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs149019598
rs149019598
1 1.000 0.080 16 2761565 missense variant C/T snv 5.7E-04 7.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs149959485
rs149959485
1 1.000 0.080 3 45947356 missense variant G/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1571013
rs1571013
FAS
1 1.000 0.080 10 88998592 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs17161747
rs17161747
1 1.000 0.080 7 140858940 intron variant G/C snv 5.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1755787
rs1755787
1 1.000 0.080 14 36235879 upstream gene variant A/T snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs17623204
rs17623204
1 1.000 0.080 7 140806604 intron variant T/A snv 5.5E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs1800812
rs1800812
2 1.000 0.080 4 54228462 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1863347
rs1863347
1 1.000 0.080 14 36242363 intergenic variant G/A snv 0.77 0.010 1.000 1 2019 2019