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: rs863225238
rs863225238
TMEM67
1 1.000 0.160 8 93797456 missense variant C/T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225239
rs863225239
TMEM67
1 1.000 0.160 8 93809166 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225240
rs863225240
TMEM67
1 1.000 0.160 8 93803689 splice region variant G/- del 0.700 1.000 1 2015 2015
dbSNP: rs1554555063
rs1554555063
TMEM67
7 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
dbSNP: rs1554557920
rs1554557920
TMEM67
1 1.000 0.160 8 93803677 splice donor variant TGAGTAATGTAA/G delins 0.700 0
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: 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: 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: rs267607114
rs267607114
TMEM67
1 1.000 0.160 8 93793256 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 5 2007 2015
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: 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: 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: 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: 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: rs267607115
rs267607115
TMEM67
2 0.925 0.280 8 93795503 missense variant T/C snv 4.0E-06 1.4E-05 0.700 1.000 3 2009 2015
dbSNP: rs386834192
rs386834192
TMEM67
2 0.925 0.320 8 93803685 splice donor variant -/T delins 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs781383498
rs781383498
TMEM67
1 1.000 0.160 8 93799649 missense variant A/C snv 8.0E-06 2.1E-05 0.700 1.000 5 2007 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: 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: rs771551765
rs771551765
TMEM67
3 0.925 0.200 8 93815388 missense variant G/A snv 8.0E-06 4.2E-05 0.700 1.000 2 1999 2017
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: rs267607119
rs267607119
TMEM67
5 0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05 0.800 1.000 7 2007 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