Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs780517804 1 23798701 missense variant G/A snv 2.0E-05 2.1E-05 1
rs794727505
GNE ; CLTA
9 36246181 missense variant A/G snv 8.0E-06 1
rs9574547 13 80057282 intron variant C/A snv 0.17 1
rs886043118 0.925 0.040 2 191009916 frameshift variant T/- delins 5
rs3814055 0.925 0.040 3 119781188 5 prime UTR variant C/T snv 0.35 4
rs1453542 0.925 0.040 11 59457412 missense variant G/A;C snv 7.2E-05; 0.26 3
rs1523127 0.925 0.040 3 119782192 5 prime UTR variant C/A snv 0.48 3
rs5925720 0.925 0.040 X 23001200 missense variant G/T snv 0.15 9.4E-02 3
rs76600635 0.925 0.040 4 38798702 missense variant A/G snv 8.2E-03 2.8E-03 3
rs7729269
MCC
0.925 0.040 5 113384697 intron variant T/C snv 0.17 3
rs879255268
SRC
0.925 0.040 20 37403347 missense variant G/A snv 3
rs10759637 1.000 0.040 9 113262744 3 prime UTR variant A/C snv 0.47 2
rs121918552 1.000 0.040 7 25123996 missense variant C/T snv 2
rs160441 1.000 0.040 8 89644760 intron variant T/C snv 0.55 2
rs218916 1.000 0.040 8 89688709 intron variant C/T snv 0.67 2
rs527297896 1.000 0.040 9 132988461 missense variant G/T snv 4.9E-04 8.4E-05 2
rs61749397
VWF
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 9
rs121908065 0.851 0.080 17 4933119 missense variant C/T snv 5
rs146249964
MPL
0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 5
rs5030764
GP9
0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 5
rs61749384
VWF
0.882 0.080 12 6019502 missense variant G/A snv 5
rs121909752 0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06 4
rs766503255 0.882 0.080 17 44372408 missense variant G/A;T snv 4.0E-06 4
rs121908064 1.000 0.080 17 4933367 missense variant A/G snv 3
rs4737420
LYN
0.925 0.080 8 55895622 non coding transcript exon variant T/C snv 0.38 3