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: 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
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: rs587777503
rs587777503
CCNO
2 0.925 0.160 5 55232446 frameshift variant AG/- delins 4.0E-06 7.0E-06 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: 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: rs797045150
rs797045150
CCNO
2 0.925 0.160 5 55231712 missense variant T/C 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: rs863223325
rs863223325
CCDC65
3 0.925 0.160 12 48918751 frameshift variant AT/- 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: 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: 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: 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: 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: rs267607227
rs267607227
DNAAF1
3 0.925 0.160 16 84154748 missense variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs397515339
rs397515339
DNAAF1
2 0.925 0.160 16 84170172 frameshift variant -/C delins 0.700 1.000 1 2009 2009