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: 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 4 2009 2017
dbSNP: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.800 1.000 3 2009 2017
dbSNP: rs750950408
rs750950408
TMEM67
2 0.925 0.280 8 93765414 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 3 2009 2017
dbSNP: rs777137476
rs777137476
TMEM67
1 1.000 0.200 8 93804784 missense variant A/G snv 8.0E-06 0.700 1.000 3 2009 2017
dbSNP: rs863225225
rs863225225
TMEM67
2 0.925 0.280 8 93797184 missense variant C/A snv 0.700 1.000 3 2009 2017
dbSNP: rs863225226
rs863225226
TMEM67
2 0.925 0.280 8 93758559 missense variant C/G snv 0.700 1.000 3 2009 2017
dbSNP: rs863225228
rs863225228
TMEM67
2 0.925 0.280 8 93787884 missense variant C/T snv 0.700 1.000 3 2009 2017
dbSNP: rs267607020
rs267607020
RPGRIP1L
2 0.925 0.360 16 53652712 missense variant A/G snv 0.800 1.000 2 2010 2011
dbSNP: rs749435317
rs749435317
TMEM67
3 0.882 0.280 8 93786287 frameshift variant A/- del 0.700 1.000 1 2006 2006
dbSNP: rs1553845300
rs1553845300
CC2D2A
1 1.000 0.200 4 15597452 stop gained G/T snv 0.700 0
dbSNP: rs1554615516
rs1554615516
TMEM67
1 1.000 0.200 8 93763874 stop gained C/T snv 0.700 0
dbSNP: rs1560184664
rs1560184664
CC2D2A
3 0.882 0.360 4 15563461 frameshift variant TA/- delins 0.700 0
dbSNP: rs202149403
rs202149403
TMEM67
4 0.851 0.360 8 93780633 missense variant T/C;G snv 8.4E-05 0.700 0
dbSNP: rs386833750
rs386833750
CC2D2A
6 0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05 0.700 0
dbSNP: rs752362727
rs752362727
TMEM67
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.800 0
dbSNP: rs758948621
rs758948621
TMEM67
2 0.925 0.280 8 93797329 splice acceptor variant A/C snv 4.0E-06 0.700 0
dbSNP: rs764719093
rs764719093
CC2D2A
3 0.882 0.360 4 15557361 stop gained C/A;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs786200867
rs786200867
TMEM67
2 0.925 0.280 8 93808957 splice donor variant G/T snv 0.700 0
dbSNP: rs863225233
rs863225233
TMEM67
2 0.925 0.280 8 93815365 missense variant T/G snv 0.700 0
dbSNP: rs863225234
rs863225234
TMEM67
2 0.925 0.280 8 93808922 missense variant A/C snv 0.700 0
dbSNP: rs863225227
rs863225227
TMEM67
2 0.925 0.280 8 93780647 missense variant A/G snv 7.0E-06 0.700 1.000 3 2009 2017
dbSNP: rs145665129
rs145665129
RPGRIP1L
2 0.925 0.360 16 53645895 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs118204052
rs118204052
CC2D2A
2 0.925 0.360 4 15599614 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs781252161
rs781252161
CC2D2A
5 0.827 0.360 4 15533284 stop gained C/T snv 1.8E-05 7.0E-06 0.700 0
dbSNP: rs1490496033
rs1490496033
TMEM67
1 1.000 0.200 8 93758565 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 3 2009 2017