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: rs397515363
rs397515363
DNAI1 ; FAM219A
2 1.000 0.160 9 34459054 splice donor variant -/T delins 0.700 1.000 2 1999 2013
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: 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: rs587777047
rs587777047
ARMC4
2 0.925 0.160 10 27862453 missense variant A/C snv 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: rs797045146
rs797045146
DNAAF2
1 1.000 0.160 14 49635119 frameshift variant C/- delins 0.700 1.000 1 2014 2014
dbSNP: rs797045147
rs797045147
RSPH4A
1 1.000 0.160 6 116616786 frameshift variant -/C delins 0.700 1.000 1 2015 2015
dbSNP: rs797045149
rs797045149
SPAG1
1 1.000 0.160 8 100191455 frameshift variant AAGTA/- delins 0.700 1.000 1 2013 2013
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: rs1554082275
rs1554082275
DNAH5
1 1.000 0.160 5 13864463 frameshift variant C/- delins 0.700 0
dbSNP: rs387907151
rs387907151
DNAAF3
2 0.925 0.160 19 55165904 missense variant A/G snv 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: rs397515340
rs397515340
MRPS18A ; RSPH9
3 0.925 0.160 6 43670918 inframe insertion GAA/-;GAAGAA delins 4.2E-05 0.700 0
dbSNP: rs397515358
rs397515358
DNAI2
1 1.000 0.160 17 74286974 splice region variant T/G snv 0.700 0
dbSNP: rs397515413
rs397515413
HYDIN
2 0.925 0.160 16 70988133 missense variant C/A snv 0.700 0
dbSNP: rs397515414
rs397515414
HYDIN
3 0.882 0.160 16 71137272 stop gained T/A snv 0.700 0
dbSNP: rs587776910
rs587776910
CCDC103 ; FAM187A
2 0.925 0.160 17 44902466 frameshift variant -/G delins 0.700 0
dbSNP: rs587776997
rs587776997
DRC1
2 0.925 0.160 2 26454783 stop gained A/T snv 0.700 0
dbSNP: rs587777058
rs587777058
RSPH1
2 0.925 0.160 21 42485807 splice region variant G/T snv 0.700 0
dbSNP: rs587777498
rs587777498
CCNO
3 0.925 0.160 5 55233272 frameshift variant CAGGG/-;CAGGGCAGGG delins 0.700 0
dbSNP: rs587777499
rs587777499
CCNO
3 0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins 0.700 0
dbSNP: rs587777500
rs587777500
CCNO
2 0.925 0.160 5 55231502 frameshift variant G/- delins 0.700 0
dbSNP: rs587777501
rs587777501
CCNO
2 0.925 0.160 5 55231467 stop gained G/A snv 0.700 0