Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1064796460 0.790 0.400 12 49185197 missense variant C/G;T snv 8
rs587784491 0.925 0.240 12 49186832 missense variant C/T snv 4
rs797045005 0.851 0.320 12 49185140 missense variant A/G snv 4
rs1057517858 0.925 0.240 12 49185714 missense variant C/A;T snv 3
rs1565627707 0.925 0.240 12 49186657 missense variant C/A snv 3
rs1057517843 1.000 0.240 12 49185725 missense variant C/A;T snv 2
rs137853043 1.000 0.240 12 49185576 missense variant G/A;C snv 2
rs137853049 1.000 0.240 12 49185102 missense variant G/A snv 2
rs1555162325 0.925 0.240 12 49185446 missense variant G/A snv 2
rs587784482 0.925 0.240 12 49185218 missense variant G/A;T snv 2
rs587784483 0.925 0.320 12 49185162 missense variant G/A;T snv 2
rs137853044 1.000 0.240 12 49185161 missense variant C/A;T snv 1
rs137853045 1.000 0.240 12 49185804 missense variant T/G snv 1
rs137853046 1.000 0.240 12 49185579 missense variant G/T snv 1
rs137853047 1.000 0.240 12 49185110 missense variant G/A snv 1
rs137853048 1.000 0.240 12 49185176 missense variant A/G snv 1
rs137853050 1.000 0.240 12 49185101 missense variant C/T snv 1
rs1555162242 1.000 0.240 12 49185062 missense variant A/G snv 1
rs1555162294 1.000 0.240 12 49185222 missense variant T/C snv 1
rs1555162456 1.000 0.240 12 49186317 missense variant C/T snv 1
rs1565627072 1.000 0.240 12 49185404 missense variant C/T snv 1
rs1565627513 1.000 0.240 12 49186364 missense variant G/C snv 1
rs1565627727 1.000 0.240 12 49186670 missense variant G/A snv 1
rs387906840 0.925 0.240 12 49186824 missense variant T/G snv 1
rs587784481 1.000 0.240 12 49185237 missense variant T/C snv 1