Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1006737 0.695 0.120 12 2236129 intron variant G/A snv 0.36 7
rs1009298200 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1010184002 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs104893851 1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 6
rs104894483 0.925 0.120 15 68214373 stop gained C/A;G;T snv 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 3
rs104894718 0.790 0.160 19 35033654 stop gained C/A;G;T snv 4.0E-06 6
rs1057516032 1.000 19 41970211 protein altering variant AGTCT/GA delins 4
rs1057516264 0.776 0.280 11 6614968 frameshift variant C/-;CC delins 13
rs1057517891 15 89333346 stop gained G/A snv 1
rs1057518770 1.000 15 25354536 missense variant C/T snv 6
rs1057518821 1.000 1 42930671 frameshift variant -/C delins 5
rs1057518843 0.790 0.240 14 87988523 missense variant C/T snv 19
rs1057518887 0.925 0.160 4 25156851 splice region variant C/T snv 7
rs1057518921 1.000 X 71132465 missense variant G/A snv 7
rs1057518932 1.000 17 44855003 missense variant T/A snv 2
rs1057518961 0.925 0.040 14 102012450 missense variant C/T snv 5
rs1057518963 0.851 0.200 X 68210239 missense variant A/G snv 6
rs1057519436 0.882 0.200 3 47846550 missense variant G/A snv 7
rs1057519438 0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06 4
rs1057519439 1.000 0.120 2 195787135 missense variant A/G snv 5
rs1057519440 1.000 0.040 X 51744647 missense variant G/A snv 3
rs1057519443 0.882 0.200 2 201675255 missense variant A/G snv 7
rs1057519444 0.925 0.120 22 32518208 missense variant GG/AA mnv 5
rs1057519463 0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins 6