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: rs200669099
rs200669099
DNAI1
2 1.000 0.160 9 34514468 stop gained G/A snv 3.6E-05 5.6E-05 0.700 1.000 2 2006 2011
dbSNP: rs587777779
rs587777779
CCDC151
3 0.882 0.160 19 11426182 stop gained C/A;T snv 0.700 1.000 2 2014 2014
dbSNP: rs137853191
rs137853191
DNAAF2
1 1.000 0.160 14 49635127 stop gained G/A;C;T snv 3.7E-05; 6.1E-06 0.700 1.000 1 2008 2008
dbSNP: rs138320978
rs138320978
RSPH1
3 0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05 0.700 1.000 1 2014 2014
dbSNP: rs201740530
rs201740530
SPAG1
3 0.882 0.160 8 100233436 stop gained C/T snv 8.7E-05 9.8E-05 0.700 1.000 1 2013 2013
dbSNP: rs587777780
rs587777780
CCDC151
2 0.925 0.160 19 11422722 stop gained G/A;T snv 4.1E-06 0.700 1.000 1 2014 2014
dbSNP: rs771663107
rs771663107
DNAH5
4 0.882 0.160 5 13865675 stop gained G/A snv 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs142371860
rs142371860
DRC1
3 0.925 0.160 2 26421396 stop gained C/A;T snv 3.9E-04 0.700 0
dbSNP: rs143740376
rs143740376
CFAP298 ; CFAP298-TCP10L
3 0.925 0.160 21 32609853 stop gained G/A snv 7.6E-05 8.4E-05 0.700 0
dbSNP: rs145742175
rs145742175
ARMC4
2 0.925 0.160 10 27944296 stop gained C/A;T snv 2.4E-05; 1.2E-05 0.700 0
dbSNP: rs202094637
rs202094637
CFAP298 ; CFAP298-TCP10L
3 0.925 0.160 21 32602299 stop gained G/A;C snv 4.0E-06; 8.0E-05 0.700 0
dbSNP: rs387907152
rs387907152
DNAAF3
3 0.925 0.160 19 55165427 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs397515414
rs397515414
HYDIN
3 0.882 0.160 16 71137272 stop gained T/A snv 0.700 0
dbSNP: rs567050969
rs567050969
DNAH8
1 1.000 0.160 6 38786788 stop gained C/T snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs587776997
rs587776997
DRC1
2 0.925 0.160 2 26454783 stop gained A/T snv 0.700 0
dbSNP: rs587777501
rs587777501
CCNO
2 0.925 0.160 5 55231467 stop gained G/A snv 0.700 0
dbSNP: rs773208371
rs773208371
DNAH5
1 1.000 0.160 5 13830658 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs777031813
rs777031813
MCIDAS
1 1.000 0.160 5 55222341 stop gained G/A;T snv 3.0E-05; 7.5E-06 0.700 0
dbSNP: rs147718607
rs147718607
CCDC114
3 0.925 0.160 19 48303953 missense variant C/T snv 2.4E-04 2.2E-04 0.700 1.000 2 2013 2013
dbSNP: rs267607227
rs267607227
DNAAF1
3 0.925 0.160 16 84154748 missense variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs387907021
rs387907021
DNAL1
3 0.925 0.160 14 73689432 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs544674332
rs544674332
DNAH1
2 0.925 0.160 3 52353613 missense variant A/C snv 4.4E-06 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs587777047
rs587777047
ARMC4
2 0.925 0.160 10 27862453 missense variant A/C snv 0.700 1.000 1 2013 2013
dbSNP: rs79833450
rs79833450
DNAI1
2 1.000 0.160 9 34513165 missense variant G/A snv 2.0E-05 2.8E-05 0.800 1.000 1 2001 2001
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
6 0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03 0.700 0