Gene: DNAH11 ×
Source: CLINVAR ×
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: rs1554292398
rs1554292398
DNAH11
1 7 21884369 frameshift variant C/- del 0.700 0
dbSNP: rs1554293484
rs1554293484
DNAH11
1 7 21894883 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1554294478
rs1554294478
DNAH11 ; CDCA7L
2 1.000 0.160 7 21901225 stop lost GCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTG/- delins 0.700 0
dbSNP: rs1554309352
rs1554309352
DNAH11
1 7 21558852 stop gained T/A snv 0.700 0
dbSNP: rs1554312483
rs1554312483
DNAH11 ; LOC105375183
1 7 21571974 splice donor variant G/A snv 0.700 0
dbSNP: rs1562521048
rs1562521048
DNAH11
1 7 21742142 frameshift variant GAGA/- delins 0.700 0
dbSNP: rs1562590250
rs1562590250
DNAH11
1 7 21861937 frameshift variant -/GC delins 0.700 0
dbSNP: rs1562684798
rs1562684798
DNAH11
1 7 21591469 frameshift variant A/- del 0.700 0
dbSNP: rs202236144
rs202236144
DNAH11
1 7 21725823 stop gained C/G;T snv 3.3E-05 6.3E-05 0.700 0
dbSNP: rs373844629
rs373844629
DNAH11
2 1.000 0.160 7 21690844 stop gained C/T snv 8.1E-06 1.4E-05 0.700 0
dbSNP: rs374107286
rs374107286
DNAH11
1 7 21601514 stop gained C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs551275210
rs551275210
DNAH11 ; CDCA7L
1 7 21901132 stop gained G/A;C;T snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs72657333
rs72657333
DNAH11
1 7 21687256 splice donor variant G/A snv 1.9E-05 1.4E-05 0.700 0
dbSNP: rs757013900
rs757013900
DNAH11
1 7 21635991 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs767595964
rs767595964
DNAH11
1 7 21698163 stop gained C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs769637393
rs769637393
DNAH11 ; LOC105375183
1 7 21571866 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs771781357
rs771781357
DNAH11
1 7 21773945 frameshift variant -/A delins 1.4E-05 0.700 0
dbSNP: rs773498002
rs773498002
DNAH11
1 7 21707816 stop gained C/G;T snv 4.3E-05; 1.7E-05 0.700 0
dbSNP: rs774903187
rs774903187
DNAH11
1 7 21899361 stop gained C/G;T snv 2.4E-05; 2.0E-05 0.700 0
dbSNP: rs775720394
rs775720394
DNAH11
2 1.000 0.160 7 21899355 stop gained C/A;T snv 1.6E-05; 1.2E-05 0.700 0
dbSNP: rs797045085
rs797045085
DNAH11
2 1.000 0.160 7 21749750 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs878854435
rs878854435
DNAH11
1 7 21864542 stop gained T/A snv 0.700 0
dbSNP: rs878854436
rs878854436
DNAH11
1 7 21868996 splice region variant G/A snv 0.700 0
dbSNP: rs878854441
rs878854441
DNAH11
1 7 21600797 stop gained G/A snv 0.700 0
dbSNP: rs878854444
rs878854444
DNAH11
1 7 21639066 splice donor variant G/A snv 7.0E-06 0.700 0