Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs398122940
DES
1.000 0.160 2 219425661 splice acceptor variant A/G snv 1
rs886043080
DES
1.000 0.160 2 219421529 frameshift variant T/- del 1
rs267607499
DES
0.851 0.160 2 219418809 missense variant A/G;T snv 1
rs1057523274
DES
1.000 0.160 2 219418463 start lost A/G snv 1
rs61726467
DES
0.882 0.160 2 219421553 stop gained G/A;T snv 1
rs397516698
DES
1.000 0.160 2 219420347 splice donor variant G/A;C;T snv 1
rs1411703397
DES
1.000 0.160 2 219421359 missense variant A/C;T snv 4.0E-06 1
rs267607482
DES
1.000 0.160 2 219421340 missense variant A/G snv 1
rs121913004
DES
1.000 0.160 2 219421482 missense variant A/C snv 1
rs748323823
DES
1.000 0.160 2 219425746 splice donor variant G/A;C snv 3.4E-05 1