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: rs11466651
rs11466651
2 0.925 0.120 4 38774699 missense variant C/T snv 6.5E-02 4.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs11466749
rs11466749
2 0.925 0.120 5 111076887 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs11584340
rs11584340
5 0.827 0.200 1 152313454 missense variant G/A snv 0.27 0.19 0.010 1.000 1 2017 2017
dbSNP: rs11644510
rs11644510
2 1.000 0.120 16 11183501 downstream gene variant C/T snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs11668618
rs11668618
1 1.000 0.120 19 10255220 non coding transcript exon variant C/T snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs11671925
rs11671925
1 1.000 0.120 19 33227147 upstream gene variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs11677002
rs11677002
1 1.000 0.120 2 28391534 intron variant T/C snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs11680788
rs11680788
1 1.000 0.120 2 32834029 intron variant C/T snv 6.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs11966760
rs11966760
2 0.925 0.120 6 52222236 intergenic variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs1234314
rs1234314
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1234315
rs1234315
6 0.807 0.400 1 173209324 upstream gene variant C/T snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs12509403
rs12509403
1 1.000 0.120 4 102604193 intron variant C/T snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs12520745
rs12520745
1 1.000 0.120 5 125252697 intron variant C/T snv 0.18 0.700 1.000 1 2014 2014
dbSNP: rs12597084
rs12597084
1 1.000 0.120 16 5769619 intron variant A/C snv 0.67 0.700 1.000 1 2014 2014
dbSNP: rs12939457
rs12939457
1 1.000 0.120 17 39875935 intron variant T/C snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs12973620
rs12973620
1 1.000 0.120 19 57738275 intron variant G/C snv 0.16 0.700 1.000 1 2014 2014
dbSNP: rs13217795
rs13217795
2 0.925 0.120 6 108652895 intron variant C/T snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs1332366
rs1332366
1 1.000 0.120 9 75217659 intergenic variant G/A snv 0.15 0.700 1.000 1 2014 2014
dbSNP: rs13395467
rs13395467
2 1.000 0.120 2 8311368 intron variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs1352323
rs1352323
1 1.000 0.120 15 92452411 intron variant G/A snv 0.32 0.700 1.000 1 2014 2014
dbSNP: rs1373976132
rs1373976132
1 1.000 0.120 2 137964586 missense variant T/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs141023293
rs141023293
1 1.000 0.120 11 116902201 intron variant G/A snv 1.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs143619350
rs143619350
1 1.000 0.120 4 38797861 stop gained G/A;T snv 1.3E-04; 4.0E-06 0.010 1.000 1 2017 2017