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: rs786200867
rs786200867
TMEM67
2 0.925 0.280 8 93808957 splice donor variant G/T snv 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: rs863225224
rs863225224
TMEM67
1 1.000 0.160 8 93793299 splice region variant A/G snv 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: rs863225226
rs863225226
TMEM67
2 0.925 0.280 8 93758559 missense variant C/G snv 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: rs863225228
rs863225228
TMEM67
2 0.925 0.280 8 93787884 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs863225229
rs863225229
TMEM67
1 1.000 0.160 8 93780608 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs863225230
rs863225230
TMEM67
1 1.000 0.160 8 93804807 missense variant C/A snv 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: 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: rs863225233
rs863225233
TMEM67
2 0.925 0.280 8 93815365 missense variant T/G 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: 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: rs863225236
rs863225236
TMEM67
1 1.000 0.160 8 93815341 missense variant G/A snv 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: 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: 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: rs267607118
rs267607118
TMEM67
1 1.000 0.160 8 93755044 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0