Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs603424
PKD2L1
1.000 0.080 10 100315722 intron variant G/A snv 0.34 13
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs753350907
PAX2
0.827 0.080 10 100806499 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 5
rs28935197
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 10
rs104894833
RPL36A-HNRNPH2 ; GLA
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 11
rs1044261
GTPBP4 ; IDI2
1.000 0.080 10 1019770 stop gained C/T snv 5.0E-02 6.0E-02 3
rs1416580204
MOK
0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 49
rs28362491
LOC105377621 ; NFKB1
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 56
rs1317947
MMP20 ; LOC101928477
1.000 0.080 11 102617342 intron variant G/A snv 0.41 2
rs5498
ICAM4 ; ICAM1
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 99
rs2282377
ASPG
1.000 0.080 14 104105483 intron variant C/G snv 0.12 0.12 2
rs267607183
INF2
0.882 0.080 14 104703440 missense variant G/A snv 3
rs117329947
LOC105369957 ; C12orf75
1.000 0.080 12 105391125 intron variant A/C snv 2.2E-02 1
rs77113398 0.925 0.080 13 106451558 intergenic variant G/A snv 6.0E-03 2
rs769354275
CELF2
1.000 0.080 10 10650339 intergenic variant T/G snv 5.0E-04 1
rs7490924
EFNB2
0.925 0.080 13 106519396 non coding transcript exon variant A/G snv 0.51 2
rs2391335
EFNB2
0.925 0.080 13 106519637 non coding transcript exon variant T/C;G snv 0.50 2
rs143810759
LIG4
0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04 6
rs281874762
COL4A5
0.882 0.160 X 108578114 stop gained G/A;T snv 5.5E-06 3
rs281874682
COL4A5
0.925 0.080 X 108598805 missense variant C/A;T snv 5.5E-06 2
rs1933182 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 3
rs2208338
ELOVL2
1.000 0.080 6 11028421 intron variant G/A snv 0.21 2
rs12194000
SLC22A16
1.000 0.080 6 110454809 intron variant A/G;T snv 2
rs10794720
WDR37
1.000 0.080 10 1110225 intron variant T/C snv 0.89 4
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67 41