Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1559352440
DES
1.000 0.160 2 219418976 stop gained C/T snv 1
rs267607482
DES
1.000 0.160 2 219421340 missense variant A/G snv 1
rs267607488
DES
1.000 0.160 2 219425732 missense variant C/T snv 1
rs267607491
DES
1.000 0.160 2 219425956 missense variant G/T snv 1
rs397516698
DES
1.000 0.160 2 219420347 splice donor variant G/A;C;T snv 1
rs398122940
DES
1.000 0.160 2 219425661 splice acceptor variant A/G snv 1
rs57496341
DES
1.000 0.160 2 219420943 missense variant T/C;G snv 1
rs57694264
DES
1.000 0.160 2 219421517 missense variant G/A snv 1
rs57955682
DES
1.000 0.160 2 219421470 missense variant T/C snv 1
rs58999456
DES
1.000 0.160 2 219418467 missense variant G/T snv 1
rs59308628
DES
1.000 0.160 2 219421425 missense variant T/C snv 1
rs60794845
DES
1.000 0.160 2 219418599 missense variant C/A;T snv 1
rs62635763
DES
1.000 0.160 2 219423787 missense variant C/A;T snv 1
rs748323823
DES
1.000 0.160 2 219425746 splice donor variant G/A;C snv 3.4E-05 1
rs886043000
DES
1.000 0.160 2 219418835 stop gained A/T snv 1
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
rs1553603239
DES
1.000 0.160 2 219418792 inframe deletion GCAGGAGCT/- delins 1
rs58687088
DES
1.000 0.160 2 219421410 inframe deletion ACA/- delins 1
rs730880289
DES
1.000 0.160 2 219420158 splice region variant AG/- delins 1
rs886043080
DES
1.000 0.160 2 219421529 frameshift variant T/- del 1