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: rs775883520
rs775883520
TMEM67
6 0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 0.710 1.000 2 2015 2017
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 7 2009 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 6 2007 2016
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 6 2009 2017
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 6 2002 2016
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 5 2007 2015
dbSNP: rs267607119
rs267607119
TMEM67
5 0.827 0.360 8 93808898 missense variant T/C snv 4.0E-05 8.4E-05 0.700 1.000 2 2009 2011
dbSNP: rs386834185
rs386834185
TMEM67
3 0.882 0.320 8 93787843 splice acceptor variant G/C;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1064792983
rs1064792983
TMEM67
2 0.925 0.200 8 93803676 splice donor variant ATGAGTAATGTAA/GG delins 0.700 0
dbSNP: rs1554556213
rs1554556213
TMEM67
2 0.925 0.200 8 93795895 splice region variant TTAT/ATAA mnv 0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs886039810
rs886039810
TMEM67
5 0.851 0.480 8 93809830 missense variant G/C snv 0.700 0