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: rs1175443221
rs1175443221
DNAH11
1 7 21862024 splice donor variant G/A snv 0.700 1.000 3 2008 2012
dbSNP: rs1554281038
rs1554281038
DNAH11
1 7 21787584 splice donor variant G/A snv 0.700 1.000 3 2008 2012
dbSNP: rs368260932
rs368260932
DNAH11
2 1.000 0.160 7 21749702 stop gained C/T snv 4.4E-05 7.7E-05 0.700 1.000 3 2012 2015
dbSNP: rs886039340
rs886039340
DNAH11
1 7 21687528 splice donor variant G/C snv 0.700 1.000 3 2008 2012
dbSNP: rs200693106
rs200693106
DNAH11
1 7 21702773 stop gained C/A;T snv 3.6E-05 0.700 1.000 2 2012 2015
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: 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: rs72657393
rs72657393
DNAH11
1 7 21808041 stop gained C/T snv 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs757784023
rs757784023
DNAH11
1 7 21900000 stop gained C/A;T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1060503041
rs1060503041
DNAH11
1 7 21748743 splice donor variant G/A snv 0.700 0
dbSNP: rs1060503063
rs1060503063
DNAH11
1 7 21842641 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1060503064
rs1060503064
DNAH11
1 7 21854418 missense variant T/C snv 0.700 0
dbSNP: rs1164659091
rs1164659091
DNAH11
1 7 21681585 stop gained G/T snv 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: rs1212535211
rs1212535211
DNAH11 ; CDCA7L
1 7 21901191 frameshift variant CGAAGAG/- delins 0.700 0
dbSNP: rs121908854
rs121908854
DNAH11
2 1.000 7 21748602 stop gained C/A;G;T snv 1.2E-03; 4.7E-06 0.700 0
dbSNP: rs121908855
rs121908855
DNAH11
2 1.000 0.160 7 21880869 stop gained C/G snv 6.1E-05 2.8E-05 0.700 0
dbSNP: rs1261703349
rs1261703349
DNAH11 ; CDCA7L
1 7 21901024 stop gained C/G;T snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs1275718084
rs1275718084
DNAH11
1 7 21702794 stop gained G/A;T snv 7.0E-06 0.700 0
dbSNP: rs1286036654
rs1286036654
DNAH11
1 7 21635937 stop gained C/T snv 0.700 0
dbSNP: rs1554269295
rs1554269295
DNAH11
1 7 21687485 frameshift variant TGAAAATGATTCATGATGCCATCAGAAACAGGAAGAAG/- delins 0.700 0
dbSNP: rs1554282583
rs1554282583
DNAH11
1 7 21801158 stop gained A/T snv 0.700 0
dbSNP: rs1554291973
rs1554291973
DNAH11
1 7 21880700 splice acceptor variant A/G snv 0.700 0