Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv 2
rs267607495
DES
2 219418497 missense variant C/T snv 2
rs62636495
DES
0.925 0.200 2 219418500 missense variant C/A;T snv 2
rs727504448
DES
2 219420116 frameshift variant G/- del 7.0E-06 2
rs397516695
DES
0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 1