Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121908175
BBS2
0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 8
rs74315396
MKKS
0.827 0.240 20 10413405 missense variant T/C snv 6.8E-05 1.1E-04 5
rs121908180
BBS2
0.925 0.120 16 56506191 stop gained G/A snv 1.2E-05 3
rs137853154
MKKS
1.000 20 10413073 stop gained G/A snv 1
rs281797259
MKKS
0.925 0.120 20 10405464 missense variant C/G snv 1