Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 48
rs121913483 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 23
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121909218 0.672 0.360 10 87933145 missense variant G/A snv 14
rs77543610 0.667 0.560 10 121520160 missense variant G/C snv 12
rs1063192 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 6
rs11892031 0.882 0.120 2 233656637 intron variant A/C;T snv 4
rs1805192 0.510 0.840 3 12379739 missense variant C/G snv 4
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 3
rs28931615 0.732 0.240 4 1804426 missense variant C/A;T snv 3
rs786204929 0.752 0.200 10 87933144 stop gained G/A;T snv 3
rs9642880 0.776 0.240 8 127705823 intron variant G/A;T snv 3
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 2
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs17674580 0.882 0.120 18 45729946 5 prime UTR variant C/A;T snv 2
rs2293607 0.807 0.200 3 169764547 non coding transcript exon variant T/A;C snv 2
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 1
rs11543198 0.882 0.120 15 74619987 missense variant G/A;T snv 0.11 1
rs118203385 1.000 0.120 9 132923383 missense variant A/C;G snv 1
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 1
rs1323541164 1.000 0.120 9 132921834 missense variant A/C snv 1
rs13278062 0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv 1
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 1
rs1800470 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 1
rs2042329 0.882 0.120 5 64771925 intron variant T/C;G snv 1