Source: ALL
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: rs1532244
rs1532244
LINC01967
1 1.000 0.040 3 28016414 intron variant A/G snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs17102823
rs17102823 		10 0.776 0.080 14 34894698 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs17649817
rs17649817
KCNIP1
1 1.000 0.040 5 170529575 intron variant C/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs3769839
rs3769839
SP110 ; SP140
2 0.925 0.080 2 230211910 intron variant T/C snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs3891175
rs3891175
HLA-DQB1
5 0.851 0.160 6 32666690 5 prime UTR variant C/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs7731017
rs7731017
DCTN4
2 0.925 0.080 5 150732056 intron variant T/C snv 8.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs853974
rs853974 		3 0.882 0.120 6 126747838 intron variant T/C snv 0.77 0.700 1.000 1 2018 2018
dbSNP: rs3197999
rs3197999
APEH ; MST1
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.700 1.000 4 2011 2017
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 3 2013 2017
dbSNP: rs7426056
rs7426056 		6 0.807 0.120 2 203747335 regulatory region variant A/G snv 0.81 0.700 1.000 3 2013 2017
dbSNP: rs13140464
rs13140464 		2 0.925 0.040 4 122578590 regulatory region variant G/T snv 0.10 0.700 1.000 2 2013 2017
dbSNP: rs1788097
rs1788097
CD226
2 0.925 0.040 18 69876452 intron variant C/T snv 0.56 0.700 1.000 2 2013 2017
dbSNP: rs1893592
rs1893592
UBASH3A
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.700 1.000 2 2016 2017
dbSNP: rs2836883
rs2836883 		4 0.882 0.080 21 39094818 intergenic variant G/A snv 0.23 0.700 1.000 2 2013 2017
dbSNP: rs3748816
rs3748816
MMEL1
7 0.827 0.200 1 2595307 missense variant A/G snv 0.41 0.46 0.700 1.000 2 2013 2017
dbSNP: rs4147359
rs4147359 		2 0.925 0.040 10 6066476 upstream gene variant G/A snv 0.33 0.700 1.000 2 2013 2017
dbSNP: rs56258221
rs56258221
LOC105377891
2 0.925 0.040 6 90320722 intron variant T/C snv 0.13 0.700 1.000 2 2013 2017
dbSNP: rs60652743
rs60652743
PRKD2
2 0.925 0.040 19 46702450 intron variant A/G snv 0.16 0.700 1.000 2 2013 2017
dbSNP: rs7937682
rs7937682
PPP2R1B ; SIK2
2 0.925 0.040 11 111709215 intron variant G/A;C snv 0.700 1.000 2 2013 2017
dbSNP: rs11632488
rs11632488 		1 1.000 0.040 15 79975159 upstream gene variant A/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs145832854
rs145832854
SGSM1
1 1.000 0.040 22 24914162 intron variant G/A snv 3.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs228614
rs228614
MANBA
2 0.925 0.120 4 102657480 intron variant G/A snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs36023390
rs36023390
FOXP1
1 1.000 0.040 3 71473942 intron variant C/T snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs4293777
rs4293777
CLNK
2 0.925 0.080 4 10715315 intergenic variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs61861422
rs61861422
INPP5A
1 1.000 0.040 10 132544853 intron variant C/G;T snv 0.700 1.000 1 2017 2017