Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 28
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs386834180
TMEM67
0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 8
rs863225235
TMEM67
0.790 0.360 8 93782444 missense variant C/A snv 4.0E-06 7.0E-06 7
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05 6
rs370880399
CC2D2A
0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04 5
rs781252161
CC2D2A
0.827 0.360 4 15533284 stop gained C/T snv 1.8E-05 7.0E-06 5
rs121918204
RPGRIP1L
0.827 0.360 16 53652637 stop gained G/A snv 6.4E-05 2.1E-05 5
rs267607119
TMEM67
0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05 5
rs202149403
TMEM67
0.851 0.360 8 93780633 missense variant T/C;G snv 8.4E-05 4
rs1560184664
CC2D2A
0.882 0.360 4 15563461 frameshift variant TA/- delins 3
rs764719093
CC2D2A
0.882 0.360 4 15557361 stop gained C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06 3
rs121918203
RPGRIP1L
0.882 0.360 16 53645694 stop gained G/A snv 2.0E-05 4.9E-05 3
rs137853107
TMEM67
0.882 0.360 8 93791282 missense variant A/G;T snv 8.0E-06; 4.0E-06 3
rs749435317
TMEM67
0.882 0.280 8 93786287 frameshift variant A/- del 3
rs118204052
CC2D2A
0.925 0.360 4 15599614 missense variant C/T snv 8.0E-06 7.0E-06 2
rs267606709
CC2D2A
0.925 0.360 4 15567735 missense variant C/T snv 3.8E-05 5.6E-05 2
rs145665129
RPGRIP1L
0.925 0.360 16 53645895 stop gained G/A snv 1.6E-05 7.0E-06 2
rs267607020
RPGRIP1L
0.925 0.360 16 53652712 missense variant A/G snv 2
rs267607115
TMEM67
0.925 0.280 8 93795503 missense variant T/C snv 4.0E-06 1.4E-05 2
rs386834182
TMEM67
0.925 0.360 8 93786253 missense variant G/A snv 6.0E-05 4.2E-05 2
rs750950408
TMEM67
0.925 0.280 8 93765414 missense variant G/A;T snv 2.4E-05; 4.0E-06 2
rs758948621
TMEM67
0.925 0.280 8 93797329 splice acceptor variant A/C snv 4.0E-06 2
rs786200867
TMEM67
0.925 0.280 8 93808957 splice donor variant G/T snv 2
rs797046045
TMEM67
0.925 0.280 8 93755851 missense variant G/T snv 7.4E-06 2