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: rs142371860
rs142371860
DRC1
3 0.925 0.160 2 26421396 stop gained C/A;T snv 3.9E-04 0.700 0
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: 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: 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: 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: rs1554082275
rs1554082275
DNAH5
1 1.000 0.160 5 13864463 frameshift variant C/- delins 0.700 0
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: 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: 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: 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: 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: rs387907151
rs387907151
DNAAF3
2 0.925 0.160 19 55165904 missense variant A/G snv 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: rs397515340
rs397515340
MRPS18A ; RSPH9
3 0.925 0.160 6 43670918 inframe insertion GAA/-;GAAGAA delins 4.2E-05 0.700 0
dbSNP: rs397515358
rs397515358
DNAI2
1 1.000 0.160 17 74286974 splice region variant T/G snv 0.700 0
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: rs397515413
rs397515413
HYDIN
2 0.925 0.160 16 70988133 missense variant C/A snv 0.700 0
dbSNP: rs397515414
rs397515414
HYDIN
3 0.882 0.160 16 71137272 stop gained T/A 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: rs398122401
rs398122401
CFAP298 ; CFAP298-TCP10L
2 0.925 0.160 21 32601941 frameshift variant AATA/- delins 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: rs587776910
rs587776910
CCDC103 ; FAM187A
2 0.925 0.160 17 44902466 frameshift variant -/G delins 0.700 0
dbSNP: rs587776997
rs587776997
DRC1
2 0.925 0.160 2 26454783 stop gained A/T snv 0.700 0
dbSNP: rs587777058
rs587777058
RSPH1
2 0.925 0.160 21 42485807 splice region variant G/T snv 0.700 0