Gene: TMEM67 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607118
rs267607118
TMEM67
1 1.000 0.160 8 93755044 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs762543032
rs762543032
TMEM67
1 1.000 0.160 8 93755798 missense variant C/T snv 4.3E-06 0.800 1.000 6 2007 2015
dbSNP: rs772437766
rs772437766
TMEM67
1 1.000 0.160 8 93755799 missense variant C/G;T snv 8.6E-06 0.800 1.000 6 2007 2015
dbSNP: rs797046045
rs797046045
TMEM67
2 0.925 0.280 8 93755851 missense variant G/T snv 7.4E-06 0.700 1.000 1 2015 2015
dbSNP: rs751309268
rs751309268
TMEM67
1 1.000 0.160 8 93755854 stop gained C/A;T snv 8.1E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225226
rs863225226
TMEM67
2 0.925 0.280 8 93758559 missense variant C/G snv 0.700 1.000 1 2015 2015
dbSNP: rs750950408
rs750950408
TMEM67
2 0.925 0.280 8 93765414 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs386834202
rs386834202
TMEM67
4 0.851 0.320 8 93765574 frameshift variant AG/- del 4.0E-06; 1.9E-04 5.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs137853108
rs137853108
TMEM67
4 0.851 0.320 8 93765617 stop gained A/T snv 1.8E-04 2.6E-04 0.700 1.000 1 2015 2015
dbSNP: rs199821258
rs199821258
TMEM67
2 0.925 0.320 8 93765648 splice donor variant T/G snv 5.6E-05 2.8E-05 0.700 0
dbSNP: rs386834205
rs386834205
TMEM67
2 0.925 0.320 8 93772612 stop gained G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs775883520
rs775883520
TMEM67
6 0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 4 2010 2017
dbSNP: rs863225229
rs863225229
TMEM67
1 1.000 0.160 8 93780608 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs202149403
rs202149403
TMEM67
4 0.851 0.360 8 93780633 missense variant T/C;G snv 8.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225227
rs863225227
TMEM67
2 0.925 0.280 8 93780647 missense variant A/G snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs775256658
rs775256658
TMEM67
1 1.000 0.160 8 93780985 splice region variant A/G snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs386834180
rs386834180
TMEM67
8 0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 0.700 1.000 1 2015 2015
dbSNP: rs863225232
rs863225232
TMEM67
2 0.925 0.280 8 93782402 missense variant C/T snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225237
rs863225237
TMEM67
1 1.000 0.160 8 93782410 stop gained G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225235
rs863225235
TMEM67
7 0.790 0.360 8 93782444 missense variant C/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225231
rs863225231
TMEM67
2 0.925 0.280 8 93782455 missense variant C/G snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs752362727
rs752362727
TMEM67
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.700 1.000 1 2015 2015
dbSNP: rs116647652
rs116647652
TMEM67
1 1.000 0.160 8 93786285 stop gained C/A;T snv 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs749435317
rs749435317
TMEM67
3 0.882 0.280 8 93786287 frameshift variant A/- del 0.700 1.000 1 2006 2006
dbSNP: rs863225228
rs863225228
TMEM67
2 0.925 0.280 8 93787884 missense variant C/T snv 0.700 1.000 1 2015 2015