Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267607116
TMEM67
0.851 0.160 8 93808861 missense variant G/A;C snv 8
rs1554555063
TMEM67
0.882 0.160 8 93791324 splice region variant G/A snv 7
rs749435317
TMEM67
0.882 0.280 8 93786287 frameshift variant A/- del 3
rs386834192
TMEM67
0.925 0.320 8 93803685 splice donor variant -/T delins 1.4E-05 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
rs1554557920
TMEM67
1.000 0.160 8 93803677 splice donor variant TGAGTAATGTAA/G delins 1
rs863225224
TMEM67
1.000 0.160 8 93793299 splice region variant A/G snv 1
rs863225229
TMEM67
1.000 0.160 8 93780608 missense variant A/G snv 1
rs863225230
TMEM67
1.000 0.160 8 93804807 missense variant C/A snv 1
rs863225236
TMEM67
1.000 0.160 8 93815341 missense variant G/A snv 1
rs863225240
TMEM67
1.000 0.160 8 93803689 splice region variant G/- del 1
rs267607118
TMEM67
1.000 0.160 8 93755044 stop gained C/T snv 4.0E-06 7.0E-06 1
rs267607114
TMEM67
1.000 0.160 8 93793256 missense variant G/A snv 4.0E-06 7.0E-06 1
rs758948621
TMEM67
0.925 0.280 8 93797329 splice acceptor variant A/C snv 4.0E-06 2
rs267607115
TMEM67
0.925 0.280 8 93795503 missense variant T/C snv 4.0E-06 1.4E-05 2
rs386834202
TMEM67
0.851 0.320 8 93765574 frameshift variant AG/- del 4.0E-06; 1.9E-04 5.6E-05 4