Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs17235409
SLC11A1
0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 1