Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557787212 1.000 0.120 1 17157671 intergenic variant G/T snv 1
rs398652 0.752 0.240 14 56058851 intergenic variant G/A snv 0.24 1
rs7675998 0.827 0.360 4 163086668 intergenic variant A/G;T snv 1
rs727505368 12 37253847 intergenic variant G/C;T snv 1
rs1567518954 1.000 0.120 16 86072089 regulatory region variant -/TGTCGCCACTGCTATGATTAAAGCTGGGGAAGCTGGACTT delins 1
rs751959430 1.000 0.200 6 50167918 intron variant G/A snv 3.3E-04 1
rs1554264612 1.000 0.080 6 99593030 downstream gene variant G/T snv 1
rs1554264613 1.000 0.080 6 99593111 downstream gene variant G/C snv 1
rs1554264616 1.000 0.080 6 99593164 downstream gene variant C/T snv 1
rs11594656 0.776 0.240 10 6080046 intergenic variant T/A snv 0.18 1
rs41295061 0.790 0.360 10 6072697 upstream gene variant C/A snv 6.1E-02 1
rs3843763 20 45919554 intergenic variant C/T snv 0.29 1
rs12821256 12 88934558 TF binding site variant T/A;C;G snv 1
rs642742 12 88905969 intergenic variant C/T snv 0.37 1
rs606231411 1.000 0.120 3 87310484 intergenic variant C/T snv 1
rs183130 16 56957451 upstream gene variant C/T snv 0.29 1
rs61199332 1.000 0.080 8 11573132 upstream gene variant C/T snv 6.2E-02 1
rs3788853 X 129736814 upstream gene variant C/A snv 0.22 1
rs35705950 0.763 0.240 11 1219991 splice region variant G/A;T snv 1
rs483352872 1.000 7 62535490 intergenic variant A/G snv 1
rs669 0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33 1
rs1409944554 1.000 12 8822661 stop gained C/T snv 4.0E-06 1
rs863224951 1.000 12 8852222 frameshift variant -/GGCTAAAT delins 1
rs202067416 1.000 12 8868358 splice donor variant G/A;C snv 9.9E-04 1.1E-03 1
rs778598915 1.000 0.080 22 42693910 synonymous variant G/A;T snv 2.2E-05 1