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: rs17445836
rs17445836
5 0.851 0.320 16 85984057 intron variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs2280381
rs2280381
3 0.882 0.080 16 85985027 intron variant C/T snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs2736340
rs2736340
22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs6479778
rs6479778
5 0.827 0.200 10 61929318 intron variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs3733197
rs3733197
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2013 2013
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs4840568
rs4840568
BLK
4 0.882 0.160 8 11493510 intron variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs2900180
rs2900180
5 0.827 0.280 9 120944104 regulatory region variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.010 1.000 1 2009 2009
dbSNP: rs2903692
rs2903692
6 0.807 0.360 16 11144926 intron variant G/A snv 0.33 0.010 1.000 1 2009 2009
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.030 1.000 3 2009 2014
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2276886
rs2276886
3 0.882 0.120 4 76007275 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs2618431
rs2618431
2 0.925 0.120 8 11466955 intron variant A/G snv 0.87 0.010 1.000 1 2018 2018
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs3761549
rs3761549
18 0.724 0.480 X 49260888 intron variant G/A snv 9.6E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs370711144
rs370711144
1 1.000 15 81225649 missense variant G/A;T snv 2.7E-04 0.010 1.000 1 2016 2016
dbSNP: rs1179251
rs1179251
14 0.763 0.320 12 68251271 intron variant C/G snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs2227478
rs2227478
2 0.925 0.040 12 68254842 upstream gene variant A/G snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs17855750
rs17855750
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3118470
rs3118470
10 0.752 0.360 10 6059750 intron variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs706778
rs706778
19 0.695 0.320 10 6056986 intron variant C/T snv 0.46 0.010 1.000 1 2010 2010