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: 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: rs863225233
rs863225233
TMEM67
2 0.925 0.280 8 93815365 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs863225236
rs863225236
TMEM67
1 1.000 0.160 8 93815341 missense variant G/A snv 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: rs786200867
rs786200867
TMEM67
2 0.925 0.280 8 93808957 splice donor variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225234
rs863225234
TMEM67
2 0.925 0.280 8 93808922 missense variant A/C snv 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: rs267607116
rs267607116
TMEM67
8 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs863225230
rs863225230
TMEM67
1 1.000 0.160 8 93804807 missense variant C/A snv 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: 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: rs1554557920
rs1554557920
TMEM67
1 1.000 0.160 8 93803677 splice donor variant TGAGTAATGTAA/G delins 0.700 0
dbSNP: rs751517725
rs751517725
TMEM67
1 1.000 0.160 8 93803652 stop gained C/G;T snv 4.0E-06; 4.0E-06 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: 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: rs758948621
rs758948621
TMEM67
2 0.925 0.280 8 93797329 splice acceptor variant A/C snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs863225225
rs863225225
TMEM67
2 0.925 0.280 8 93797184 missense variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 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: rs863225224
rs863225224
TMEM67
1 1.000 0.160 8 93793299 splice region variant A/G snv 0.700 1.000 1 2015 2015
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: rs1554555063
rs1554555063
TMEM67
7 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
dbSNP: rs137853107
rs137853107
TMEM67
3 0.882 0.360 8 93791282 missense variant A/G;T snv 8.0E-06; 4.0E-06 0.800 1.000 6 2007 2015
dbSNP: rs863225228
rs863225228
TMEM67
2 0.925 0.280 8 93787884 missense variant C/T snv 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