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: rs606231165
rs606231165
DNAI1
1 1.000 0.160 9 34514480 inframe deletion CCAAGGTCTTCA/- delins 0.700 0
dbSNP: rs397515563
rs397515563
DNAI1
2 1.000 0.160 9 34517468 splice donor variant G/A snv 4.0E-06 0.700 1.000 1 2006 2006
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: rs200382776
rs200382776
RSPH1
2 1.000 0.160 21 42477286 splice region variant C/T snv 2.6E-04 6.6E-05 0.700 0
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: rs797045148
rs797045148
RSPH1
1 1.000 0.160 21 42485804 splice region variant C/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: 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: 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: rs397515340
rs397515340
MRPS18A ; RSPH9
3 0.925 0.160 6 43670918 inframe insertion GAA/-;GAAGAA delins 4.2E-05 0.700 0
dbSNP: rs587776910
rs587776910
CCDC103 ; FAM187A
2 0.925 0.160 17 44902466 frameshift variant -/G delins 0.700 0
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: 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: rs863223325
rs863223325
CCDC65
3 0.925 0.160 12 48918751 frameshift variant AT/- delins 0.700 0
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: rs797045146
rs797045146
DNAAF2
1 1.000 0.160 14 49635119 frameshift variant C/- delins 0.700 1.000 1 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: 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: 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: 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: rs397515395
rs397515395
DNAAF3 ; LOC101930593
2 0.925 0.160 19 55161684 frameshift variant -/A delins 7.3E-06; 7.3E-06 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: rs387907151
rs387907151
DNAAF3
2 0.925 0.160 19 55165904 missense variant A/G snv 0.700 0
dbSNP: rs797045152
rs797045152
MCIDAS
1 1.000 0.160 5 55220382 missense variant C/A;T snv 0.700 0
dbSNP: rs797045151
rs797045151
MCIDAS
1 1.000 0.160 5 55220427 missense variant C/T snv 0.700 0