Source: CLINVAR

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
rs775883520
TMEM67
0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 6
rs267607119
TMEM67
0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05 5
rs886039810
TMEM67
0.851 0.480 8 93809830 missense variant G/C snv 5
rs137853108
TMEM67
0.851 0.320 8 93765617 stop gained A/T snv 1.8E-04 2.6E-04 4
rs386834202
TMEM67
0.851 0.320 8 93765574 frameshift variant AG/- del 4.0E-06; 1.9E-04 5.6E-05 4
rs386834185
TMEM67
0.882 0.320 8 93787843 splice acceptor variant G/C;T snv 3
rs1064792983
TMEM67
0.925 0.200 8 93803676 splice donor variant ATGAGTAATGTAA/GG delins 2
rs1554556213
TMEM67
0.925 0.200 8 93795895 splice region variant TTAT/ATAA mnv 2