Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894228 0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs121913273 0.605 0.440 3 179218294 missense variant G/A;C snv 21
rs121913499 0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 16
rs1143627 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 1
rs2279744 0.605 0.640 12 68808800 intron variant T/G snv 0.31 1
rs2070744 0.608 0.680 7 150992991 intron variant C/T snv 0.70 1
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 29
rs121913281 0.623 0.520 3 179234296 missense variant C/T snv 37
rs3087243 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 2
rs121913233 0.627 0.520 11 533874 missense variant T/A;C;G snv 20
rs121913355 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs397516436 0.641 0.440 17 7674894 stop gained G/A;C snv 26
rs28934575 0.641 0.400 17 7674230 missense variant C/A;G;T snv 25
rs886039484 0.641 0.440 17 7674888 missense variant T/C;G snv 10
rs1800206 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 1
rs121913274 0.645 0.320 3 179218304 missense variant A/C;G;T snv 28
rs121912666 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 24
rs760043106 0.645 0.440 17 7674947 missense variant A/C;G;T snv 18
rs28934571 0.645 0.360 17 7674216 missense variant C/A;G snv 4
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 1
rs1057519975 0.649 0.480 17 7675209 missense variant A/C;G;T snv 13
rs34612342 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 11
rs9344 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 3
rs4950928 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 1