Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1000091588 1.000 0.120 11 68935374 stop gained C/T snv 7.0E-06 1
rs1001570418 1.000 0.080 15 89325609 missense variant C/T snv 4.0E-06 7.0E-06 1
rs1002088882 0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06 4
rs1002571805 1.000 0.160 1 45508837 stop gained G/A;C snv 1
rs1003442806 1.000 0.080 15 89322875 missense variant G/A;T snv 4.0E-06; 4.0E-06 1
rs1003869920 0.925 0.080 1 215674335 stop gained G/A snv 7.0E-06 2
rs1004027979
BTD
1.000 0.080 3 15644951 frameshift variant -/TC delins 2.8E-05 1
rs1004492719 1.000 0.120 9 130466762 frameshift variant TTCAAGGG/- delins 1
rs1005389790 1.000 2 227101899 missense variant C/A;T snv 1
rs1005542482 1.000 0.120 6 80106694 start lost A/G;T snv 1.3E-05 1.4E-05 1
rs1006060877 1.000 0.080 13 23354743 frameshift variant C/- del 1.4E-05 1
rs1006150317 1.000 0.120 19 12891875 stop gained G/T snv 1
rs1006246556 1.000 0.040 2 202556253 missense variant G/A;T snv 1
rs10065172 0.790 0.200 5 150848436 synonymous variant C/T snv 0.17 0.21 1
rs1006839535 1.000 0.200 4 78526552 stop gained C/G snv 1
rs1006898944 19 36099453 stop gained C/T snv 1
rs1006906224 1.000 0.040 5 177211437 stop gained C/G;T snv 1
rs1006935198 0.882 0.080 17 8015048 stop gained C/G snv 3
rs1006994885 1.000 0.160 16 16150577 splice donor variant C/A;G snv 5
rs1007338250 1.000 0.120 5 74685558 stop gained C/G;T snv 1
rs1007345781 3 180616604 frameshift variant GT/- delins 8.7E-06 2.8E-05 1
rs1007534611 1.000 0.120 4 5809612 splice donor variant G/T snv 4.0E-06 2.1E-05 1
rs1007812513 1.000 6 43622692 stop gained G/A snv 1
rs1008088032 1.000 10 132785151 missense variant C/G;T snv 4.1E-06 1
rs1008240677 1.000 0.120 8 63086009 stop gained G/A snv 1