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: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs10758593
rs10758593
8 0.827 0.240 9 4292083 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs10814916
rs10814916
7 0.851 0.200 9 4293150 intron variant A/C snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs11171739
rs11171739
10 0.807 0.320 12 56076841 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs1518364
rs1518364
3 0.925 0.120 2 197945251 intron variant G/A snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs17000730
rs17000730
3 0.882 0.120 19 10380572 5 prime UTR variant T/C snv 5.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs2292239
rs2292239
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2492358
rs2492358
5 0.851 0.160 9 34737831 intron variant C/T snv 0.78 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 2015 2015
dbSNP: rs280501
rs280501
3 0.882 0.120 19 10380646 upstream gene variant C/T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs2853676
rs2853676
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs6738825
rs6738825
5 0.851 0.200 2 198032171 intron variant A/G snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs7572733
rs7572733
4 0.925 0.120 2 198065082 intron variant C/T snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs7750458
rs7750458
2 0.925 0.120 6 33077921 intron variant G/A snv 9.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs7812879
rs7812879
6 0.807 0.320 8 11482672 upstream gene variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs938929
rs938929
3 0.925 0.120 2 197916136 intron variant A/G snv 0.50 0.010 1.000 1 2016 2016
dbSNP: rs9500928
rs9500928
2 0.925 0.120 6 33081917 intron variant C/T snv 4.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs9501251
rs9501251
3 0.882 0.200 6 33081886 intron variant A/G snv 4.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs951005
rs951005
10 0.807 0.200 9 34743684 intron variant G/A snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs9986765
rs9986765
PIP
3 0.925 0.120 7 143138146 intron variant A/G snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs3750716
rs3750716
2 0.925 0.120 10 100057106 synonymous variant C/G;T snv 6.6E-03 0.010 1.000 1 2016 2016