Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs903985237
DES
1.000 0.160 2 219418482 missense variant C/T snv 1
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 10
rs60538473
DES
0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins 2
rs57694264
DES
1.000 0.160 2 219421517 missense variant G/A snv 1
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 6
rs267607486
DES
1.000 0.160 2 219420346 missense variant G/A;C snv 3
rs748323823
DES
1.000 0.160 2 219425746 splice donor variant G/A;C snv 3.4E-05 1
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 11
rs61368398
DES
1.000 0.160 2 219421380 missense variant G/A;C;T snv 3.2E-05 2
rs397516698
DES
1.000 0.160 2 219420347 splice donor variant G/A;C;T snv 1
rs61726467
DES
0.882 0.160 2 219421553 stop gained G/A;T snv 3
rs58898021
DES
0.925 0.160 2 219421385 missense variant G/C snv 3
rs121913000
DES
1.000 0.160 2 219421394 missense variant G/C snv 1
rs61130669
DES
0.925 0.160 2 219421511 missense variant G/T snv 2
rs267607491
DES
1.000 0.160 2 219425956 missense variant G/T snv 1
rs58999456
DES
1.000 0.160 2 219418467 missense variant G/T snv 1
rs1553603239
DES
1.000 0.160 2 219418792 inframe deletion GCAGGAGCT/- delins 1
rs886043080
DES
1.000 0.160 2 219421529 frameshift variant T/- del 1
rs57639980
DES
1.000 0.160 2 219421350 missense variant T/C snv 2
rs57955682
DES
1.000 0.160 2 219421470 missense variant T/C snv 1
rs59308628
DES
1.000 0.160 2 219421425 missense variant T/C snv 1
rs57496341
DES
1.000 0.160 2 219420943 missense variant T/C;G snv 1