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: rs1554082275
rs1554082275
DNAH5
1 1.000 0.160 5 13864463 frameshift variant C/- delins 0.700 0
dbSNP: rs397515413
rs397515413
HYDIN
2 0.925 0.160 16 70988133 missense variant C/A snv 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: 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: rs142371860
rs142371860
DRC1
3 0.925 0.160 2 26421396 stop gained C/A;T snv 3.9E-04 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: rs797045152
rs797045152
MCIDAS
1 1.000 0.160 5 55220382 missense variant C/A;T 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: 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: 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: rs202213517
rs202213517
DNAI1
1 1.000 0.160 9 34497160 missense variant C/T snv 1.8E-03 4.5E-04 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: rs797045148
rs797045148
RSPH1
1 1.000 0.160 21 42485804 splice region variant C/T snv 0.700 0
dbSNP: rs797045151
rs797045151
MCIDAS
1 1.000 0.160 5 55220427 missense variant C/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: rs606231165
rs606231165
DNAI1
1 1.000 0.160 9 34514480 inframe deletion CCAAGGTCTTCA/- delins 0.700 0
dbSNP: rs587777500
rs587777500
CCNO
2 0.925 0.160 5 55231502 frameshift variant G/- delins 0.700 0
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: 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: 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: 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: 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: rs387907152
rs387907152
DNAAF3
3 0.925 0.160 19 55165427 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs587777501
rs587777501
CCNO
2 0.925 0.160 5 55231467 stop gained G/A snv 0.700 0
dbSNP: rs745993158
rs745993158
CCDC40
1 1.000 0.160 17 80082059 splice donor variant G/A snv 4.0E-06 0.700 0