Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 10
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05 8
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv 4
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05 3
rs727504448
DES
2 219420116 frameshift variant G/- del 7.0E-06 2
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv 2
rs62636495
DES
0.925 0.200 2 219418500 missense variant C/A;T snv 2
rs267607495
DES
2 219418497 missense variant C/T snv 2
rs60538473
DES
0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins 2
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05 2
rs397516694
DES
1.000 0.080 2 219418842 missense variant G/C snv 1
rs759320891
DES
1.000 0.080 2 219420915 stop gained C/A;T snv 4.0E-06; 4.0E-06 1
rs1400593451
DES
1.000 0.080 2 219418827 missense variant A/G;T snv 5.0E-06 1
rs57639980
DES
1.000 0.160 2 219421350 missense variant T/C snv 1
rs57496341
DES
1.000 0.160 2 219420943 missense variant T/C;G snv 1
rs121913005
DES
1.000 0.160 2 219425699 missense variant C/A;T snv 4.5E-06 1
rs57955682
DES
1.000 0.160 2 219421470 missense variant T/C snv 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
rs62635763
DES
1.000 0.160 2 219423787 missense variant C/A;T snv 1
rs121913000
DES
1.000 0.160 2 219421394 missense variant G/C snv 1
rs121913001
DES
1.000 0.160 2 219421494 missense variant A/G;T snv 1.2E-05 1
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv 1
rs1060503165
DES
1.000 0.160 2 219418856 stop gained C/T snv 1
rs61368398
DES
1.000 0.160 2 219421380 missense variant G/A;C;T snv 3.2E-05 1