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: rs797045149
rs797045149
SPAG1
1 1.000 0.160 8 100191455 frameshift variant AAGTA/- delins 0.700 1.000 1 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: rs587777780
rs587777780
CCDC151
2 0.925 0.160 19 11422722 stop gained G/A;T snv 4.1E-06 0.700 1.000 1 2014 2014
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: rs797045147
rs797045147
RSPH4A
1 1.000 0.160 6 116616786 frameshift variant -/C delins 0.700 1.000 1 2015 2015
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: 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: rs773208371
rs773208371
DNAH5
1 1.000 0.160 5 13830658 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs1554082275
rs1554082275
DNAH5
1 1.000 0.160 5 13864463 frameshift variant C/- delins 0.700 0
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: rs142800871
rs142800871
RSPH3
2 0.925 0.160 6 158986423 splice acceptor variant T/C snv 4.6E-05 2.1E-05 0.700 0
dbSNP: rs142371860
rs142371860
DRC1
3 0.925 0.160 2 26421396 stop gained C/A;T snv 3.9E-04 0.700 0
dbSNP: rs587776997
rs587776997
DRC1
2 0.925 0.160 2 26454783 stop gained A/T snv 0.700 0
dbSNP: rs587777047
rs587777047
ARMC4
2 0.925 0.160 10 27862453 missense variant A/C snv 0.700 1.000 1 2013 2013
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: rs398122401
rs398122401
CFAP298 ; CFAP298-TCP10L
2 0.925 0.160 21 32601941 frameshift variant AATA/- delins 4.0E-06 0.700 0
dbSNP: rs202094637
rs202094637
CFAP298 ; CFAP298-TCP10L
3 0.925 0.160 21 32602299 stop gained G/A;C snv 4.0E-06; 8.0E-05 0.700 0
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: rs397515363
rs397515363
DNAI1 ; FAM219A
2 1.000 0.160 9 34459054 splice donor variant -/T delins 0.700 1.000 2 1999 2013
dbSNP: rs606231164
rs606231164
DNAI1
1 1.000 0.160 9 34489343 frameshift variant -/AATA ins 0.700 0
dbSNP: rs200488444
rs200488444
DNAI1
2 1.000 0.160 9 34490011 splice acceptor variant G/C snv 4.1E-04 4.5E-04 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: rs376252276
rs376252276
DNAI1
2 1.000 0.160 9 34513112 missense variant G/A;C;T snv 7.6E-05; 4.0E-06; 4.0E-06 0.700 0
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