Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553845300
CC2D2A
1.000 0.200 4 15597452 stop gained G/T snv 1
rs1490496033
TMEM67
1.000 0.200 8 93758565 missense variant G/C snv 4.0E-06 7.0E-06 1
rs1554615516
TMEM67
1.000 0.200 8 93763874 stop gained C/T snv 1
rs777137476
TMEM67
1.000 0.200 8 93804784 missense variant A/G snv 8.0E-06 1
rs786200868
TMEM67
1.000 0.200 8 93755871 splice region variant G/A snv 7.1E-06 1
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
rs863225225
TMEM67
0.925 0.280 8 93797184 missense variant C/A snv 2
rs863225226
TMEM67
0.925 0.280 8 93758559 missense variant C/G snv 2
rs863225227
TMEM67
0.925 0.280 8 93780647 missense variant A/G snv 7.0E-06 2
rs863225228
TMEM67
0.925 0.280 8 93787884 missense variant C/T snv 2
rs863225231
TMEM67
0.925 0.280 8 93782455 missense variant C/G snv 7.0E-06 2
rs863225232
TMEM67
0.925 0.280 8 93782402 missense variant C/T snv 7.0E-06 2
rs863225233
TMEM67
0.925 0.280 8 93815365 missense variant T/G snv 2
rs863225234
TMEM67
0.925 0.280 8 93808922 missense variant A/C snv 2
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