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: 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: 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: rs1554082275
rs1554082275
DNAH5
1 1.000 0.160 5 13864463 frameshift variant C/- delins 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: rs397515358
rs397515358
DNAI2
1 1.000 0.160 17 74286974 splice region variant T/G snv 0.700 0
dbSNP: rs397515565
rs397515565
DNAI2
1 1.000 0.160 17 74310164 splice donor variant G/A;C;T snv 1.2E-05; 8.0E-06; 4.0E-06 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: rs606231164
rs606231164
DNAI1
1 1.000 0.160 9 34489343 frameshift variant -/AATA ins 0.700 0
dbSNP: rs606231165
rs606231165
DNAI1
1 1.000 0.160 9 34514480 inframe deletion CCAAGGTCTTCA/- delins 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
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: 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: rs797045152
rs797045152
MCIDAS
1 1.000 0.160 5 55220382 missense variant C/A;T snv 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: rs397515363
rs397515363
DNAI1 ; FAM219A
2 1.000 0.160 9 34459054 splice donor variant -/T delins 0.700 1.000 2 1999 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: 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: 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: 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