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: rs1554309352
rs1554309352
DNAH11
1 7 21558852 stop gained T/A snv 0.700 0
dbSNP: rs769637393
rs769637393
DNAH11 ; LOC105375183
1 7 21571866 stop gained A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1554312483
rs1554312483
DNAH11 ; LOC105375183
1 7 21571974 splice donor variant G/A snv 0.700 0
dbSNP: rs1562684798
rs1562684798
DNAH11
1 7 21591469 frameshift variant A/- del 0.700 0
dbSNP: rs1178187217
rs1178187217
DNAH11
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs878854441
rs878854441
DNAH11
1 7 21600797 stop gained G/A snv 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: rs532007878
rs532007878
DNAH11
1 7 21616294 splice donor variant C/A;T snv 1.3E-04 0.700 1.000 1 2012 2012
dbSNP: rs72657316
rs72657316
DNAH11
1 7 21619178 stop gained C/T snv 2.8E-05 4.2E-05 0.700 1.000 1 2012 2012
dbSNP: rs72657321
rs72657321
DNAH11
1 7 21620016 stop gained C/T snv 1.2E-05 2.8E-05 0.700 1.000 1 2012 2012
dbSNP: rs1286036654
rs1286036654
DNAH11
1 7 21635937 stop gained C/T snv 0.700 0
dbSNP: rs757013900
rs757013900
DNAH11
1 7 21635991 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs878854444
rs878854444
DNAH11
1 7 21639066 splice donor variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1164659091
rs1164659091
DNAH11
1 7 21681585 stop gained G/T snv 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: rs1554269295
rs1554269295
DNAH11
1 7 21687485 frameshift variant TGAAAATGATTCATGATGCCATCAGAAACAGGAAGAAG/- delins 0.700 0
dbSNP: rs886039340
rs886039340
DNAH11
1 7 21687528 splice donor variant G/C snv 0.700 1.000 3 2008 2012
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: rs767595964
rs767595964
DNAH11
1 7 21698163 stop gained C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs200693106
rs200693106
DNAH11
1 7 21702773 stop gained C/A;T snv 3.6E-05 0.700 1.000 2 2012 2015
dbSNP: rs1275718084
rs1275718084
DNAH11
1 7 21702794 stop gained G/A;T snv 7.0E-06 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: rs201943194
rs201943194
DNAH11
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs878854445
rs878854445
DNAH11
1 7 21720729 frameshift variant AT/- delins 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