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: 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: rs606231164
rs606231164
DNAI1
1 1.000 0.160 9 34489343 frameshift variant -/AATA ins 0.700 0
dbSNP: rs397515339
rs397515339
DNAAF1
2 0.925 0.160 16 84170172 frameshift variant -/C delins 0.700 1.000 1 2009 2009
dbSNP: rs797045147
rs797045147
RSPH4A
1 1.000 0.160 6 116616786 frameshift variant -/C delins 0.700 1.000 1 2015 2015
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: rs587777499
rs587777499
CCNO
3 0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins 0.700 0
dbSNP: rs587778819
rs587778819
CCDC40
2 1.000 0.160 17 80089876 frameshift variant -/CTGT;TGT ins 3.6E-05 0.700 0
dbSNP: rs587776910
rs587776910
CCDC103 ; FAM187A
2 0.925 0.160 17 44902466 frameshift variant -/G delins 0.700 0
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: rs587777502
rs587777502
CCNO
3 0.925 0.160 5 55233256 frameshift variant -/TGGGC delins 4.9E-06; 1.3E-04; 4.9E-06; 2.0E-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: rs587777047
rs587777047
ARMC4
2 0.925 0.160 10 27862453 missense variant A/C snv 0.700 1.000 1 2013 2013
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: rs387907021
rs387907021
DNAL1
3 0.925 0.160 14 73689432 missense variant A/G snv 0.700 1.000 1 2011 2011
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: rs387907151
rs387907151
DNAAF3
2 0.925 0.160 19 55165904 missense variant A/G snv 0.700 0
dbSNP: rs587776997
rs587776997
DRC1
2 0.925 0.160 2 26454783 stop gained A/T snv 0.700 0
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: rs797045149
rs797045149
SPAG1
1 1.000 0.160 8 100191455 frameshift variant AAGTA/- delins 0.700 1.000 1 2013 2013
dbSNP: rs398122401
rs398122401
CFAP298 ; CFAP298-TCP10L
2 0.925 0.160 21 32601941 frameshift variant AATA/- delins 4.0E-06 0.700 0
dbSNP: rs587777503
rs587777503
CCNO
2 0.925 0.160 5 55232446 frameshift variant AG/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs863223325
rs863223325
CCDC65
3 0.925 0.160 12 48918751 frameshift variant AT/- delins 0.700 0
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: rs797045146
rs797045146
DNAAF2
1 1.000 0.160 14 49635119 frameshift variant C/- delins 0.700 1.000 1 2014 2014