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: 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
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: 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: 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: rs397515414
rs397515414
HYDIN
3 0.882 0.160 16 71137272 stop gained T/A snv 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: rs760123202
rs760123202
LRRC6
2 0.925 0.160 8 132632763 frameshift variant C/- delins 1.8E-04 7.0E-06 0.700 1.000 2 2013 2014
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: rs138815960
rs138815960
ZMYND10
3 0.925 0.160 3 50345533 splice donor variant A/C snv 2.7E-04 2.1E-04 0.700 1.000 1 2013 2013
dbSNP: rs151107532
rs151107532
RSPH1
3 0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04 0.700 1.000 1 2014 2014
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: rs397515339
rs397515339
DNAAF1
2 0.925 0.160 16 84170172 frameshift variant -/C delins 0.700 1.000 1 2009 2009
dbSNP: rs397515341
rs397515341
DNAAF2
2 0.925 0.160 14 49633935 frameshift variant -/CCACGCAGGTATCGTG delins 7.8E-06; 7.8E-06 2.8E-05 0.700 1.000 1 2008 2008
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: rs587777059
rs587777059
RSPH1
2 0.925 0.160 21 42485760 frameshift variant TACT/- delins 8.0E-06 0.700 1.000 1 2014 2014
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: rs869320683
rs869320683
RSPH4A
3 0.925 0.160 6 116623002 splice region variant AAGT/- delins 2.7E-04 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: rs142800871
rs142800871
RSPH3
2 0.925 0.160 6 158986423 splice acceptor variant T/C snv 4.6E-05 2.1E-05 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: rs200913791
rs200913791
RASSF1 ; ZMYND10
3 0.925 0.160 3 50342473 missense variant A/G snv 2.0E-04 3.5E-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