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: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.800 1.000 1 2009 2009
dbSNP: rs267607116
rs267607116
TMEM67
8 0.851 0.160 8 93808861 missense variant G/A;C snv 0.800 1.000 1 2009 2009
dbSNP: rs267607117
rs267607117
TMEM67
2 0.925 0.080 8 93780747 missense variant G/T snv 0.800 1.000 1 2009 2009
dbSNP: rs386834180
rs386834180
TMEM67
8 0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05 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: rs863225235
rs863225235
TMEM67
7 0.790 0.360 8 93782444 missense variant C/A snv 4.0E-06 7.0E-06 0.700 0