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: rs137853106
rs137853106
TMEM67
1 1.000 0.280 8 93782456 missense variant A/C snv 0.800 1.000 6 2006 2011
dbSNP: rs386834188
rs386834188
TMEM67
1 1.000 0.280 8 93755075 missense variant A/G snv 7.0E-06 0.800 1.000 6 2006 2011
dbSNP: rs386834189
rs386834189
TMEM67
1 1.000 0.280 8 93797372 missense variant T/C snv 0.800 1.000 6 2006 2011
dbSNP: rs386834194
rs386834194
TMEM67
1 1.000 0.280 8 93808928 missense variant A/G snv 1.4E-05 0.800 1.000 6 2006 2011
dbSNP: rs386834206
rs386834206
TMEM67
1 1.000 0.280 8 93780612 missense variant C/T snv 0.800 1.000 6 2006 2011
dbSNP: rs386834200
rs386834200
TMEM67
1 1.000 0.280 8 93758552 frameshift variant AC/- delins 0.700 1.000 1 2007 2007
dbSNP: rs386834181
rs386834181
TMEM67
1 1.000 0.280 8 93781744 splice donor variant G/- delins 0.700 0
dbSNP: rs386834185
rs386834185
TMEM67
3 0.882 0.320 8 93787843 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs386834186
rs386834186
TMEM67
1 1.000 0.280 8 93791280 frameshift variant AT/- delins 0.700 0
dbSNP: rs386834187
rs386834187
TMEM67
1 1.000 0.280 8 93791320 splice donor variant G/A snv 0.700 0
dbSNP: rs386834190
rs386834190
TMEM67
1 1.000 0.280 8 93755776 splice acceptor variant A/- del 9.6E-05 0.700 0
dbSNP: rs386834191
rs386834191
TMEM67
1 1.000 0.280 8 93803662 frameshift variant T/- delins 0.700 0
dbSNP: rs386834192
rs386834192
TMEM67
2 0.925 0.320 8 93803685 splice donor variant -/T delins 1.4E-05 0.700 0
dbSNP: rs386834195
rs386834195
TMEM67
1 1.000 0.280 8 93808942 stop gained G/T snv 0.700 0
dbSNP: rs386834196
rs386834196
TMEM67
1 1.000 0.280 8 93809057 stop gained A/T snv 0.700 0
dbSNP: rs386834197
rs386834197
TMEM67
1 1.000 0.280 8 93809056 frameshift variant -/A delins 0.700 0
dbSNP: rs386834198
rs386834198
TMEM67
1 1.000 0.280 8 93809811 frameshift variant -/TA delins 0.700 0
dbSNP: rs386834203
rs386834203
TMEM67
1 1.000 0.280 8 93765574 frameshift variant A/- del 0.700 0
dbSNP: rs386834204
rs386834204
TMEM67
1 1.000 0.280 8 93765642 frameshift variant A/- delins 0.700 0
dbSNP: rs386834207
rs386834207
TMEM67
1 1.000 0.280 8 93780872 splice acceptor variant A/G snv 0.700 0
dbSNP: rs786205126
rs786205126
TMEM67
1 1.000 0.280 8 93809876 inframe deletion CTT/- delins 0.700 0
dbSNP: rs386834184
rs386834184
TMEM67
1 1.000 0.280 8 93786270 missense variant G/C;T snv 4.0E-06 0.700 0
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 0
dbSNP: rs863225235
rs863225235
TMEM67
7 0.790 0.360 8 93782444 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs386834193
rs386834193
TMEM67
1 1.000 0.280 8 93804796 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 5 2006 2010