Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs3743930
MEFV
0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 43
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 38
rs759191907
LOC105379841 ; ENG
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 25
rs397516915
DSP
0.925 0.080 6 7568443 stop gained C/T snv 4.0E-06 6
rs36211715
MYH7
0.851 0.080 14 23424839 missense variant C/A;G;T snv 4.0E-06 5