Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 19
rs112505971 10 27068541 intron variant A/C;G snv 13
rs3123543 1 212617344 intron variant T/A;C snv 13
rs3840870 17 50184820 3 prime UTR variant -/CTTG delins 13
rs35188965 5 1104823 intron variant C/G;T snv 12
rs11082304 18 23141009 intron variant G/C;T snv 5
rs56043070 1 247556467 splice donor variant G/A;T snv 5.2E-02; 4.1E-06 4
rs9494145 0.925 0.080 6 135111414 intergenic variant T/A;C snv 4
rs11071720 15 63049797 intron variant T/C;G snv 3
rs11601507 1.000 0.040 11 5679844 missense variant C/A;T snv 9.3E-02; 4.0E-06 3
rs17396340 1 10226118 intron variant G/A;C snv 3
rs17572109 2 218229211 non coding transcript exon variant G/A;T snv 3
rs4907622 13 113362571 intron variant G/C;T snv 3
rs553749201 17 4933900 synonymous variant C/A snv 3
rs11471957 20 59023277 intron variant -/AA ins 2
rs11731274 4 6889728 intergenic variant T/A;G snv 2
rs12096438 1 25562931 non coding transcript exon variant C/A;T snv 2
rs12155039 7 44833526 intron variant C/A;T snv 2
rs13042885 20 1944061 upstream gene variant C/A;T snv 2
rs2038480 1 171970501 intron variant A/G;T snv 2
rs216311
VWF
0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69 2
rs2455799
BTD
3 15659677 intron variant G/C;T snv 2
rs34603233 17 44377655 intron variant AGCCCCTGG/-;AGCCCCTGGAGCCCCTGG delins 2
rs4699154 4 105112927 intron variant T/A;C snv 2
rs649729 1.000 0.040 2 31241519 intron variant T/A;C snv 2